FlyBase Allele Report: Dmel\Mmp1[Q112stop]

General Information

Symbol

Dmel\Mmp1^Q112stop

Species

D. melanogaster

Name

FlyBase ID

FBal0150759

Feature type

allele

Associated gene

Dmel\Mmp1

Associated Insertion(s)

Carried in Construct

Also Known As

mmp1^Q112*, Mmp1^Q112

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

amorphic allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele

(Glasheen et al., 2010)

loss of function allele

(Page-McCaw et al., 2003)

Mutagen

ethyl methanesulfonate

(Page-McCaw et al., 2003)

Progenitor genotype

Cytology

Description

Amino acid replacement: Q112term.

(Page-McCaw et al., 2003)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:24,676,368..24,676,368 [-]

Nucleotide change:

C24676368T

Amino acid change:

Reported amino acid change:

Q112term

Comment:

The current annotation uses an upstream AUG 29aa upstream relative to previous reports. This accounts for the discrepency in the reported vs. annotated amino acid coordinate of the mutation.

Comment:

Site of nucleic acid difference in mutant inferred by FlyBase based on reported amino acid change.

(Page-McCaw et al., 2003)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates fragile X syndrome

modeled by Fmr1^Δ50M

(Siller and Broadie, 2011)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal cell adhesion | embryonic stage

(Raza et al., 2017)

abnormal cell migration | embryonic stage

(Raza et al., 2017)

abnormal developmental rate | larval stage

(Page-McCaw et al., 2003)

abnormal neuroanatomy | embryonic stage

(Miller et al., 2008)

abnormal neuroanatomy | embryonic stage (with Mmp1²)

(Miller et al., 2008)

abnormal size (with Mmp1²)

(Glasheen et al., 2010)

abnormal wound healing | larval stage

(McClure et al., 2008)

decreased body size | larval stage (with Mmp1²)

(Page-McCaw et al., 2003)

increased occurrence of cell division | larval stage | conditional

(McClure et al., 2008)

lethal | pupal stage (with Mmp1²)

(Page-McCaw et al., 2003)

lethal - all die before end of larval stage

(Glasheen et al., 2009, Guha et al., 2009, Page-McCaw et al., 2003)

lethal - all die before end of larval stage (with Mmp1²)

(Glasheen et al., 2009)

lethal - all die before end of pupal stage

(Siller and Broadie, 2011)

partially lethal - majority die | larval stage (with Mmp1²)

(Page-McCaw et al., 2003)

some die during larval stage

(Glasheen et al., 2009, Guha et al., 2009, Page-McCaw et al., 2003)

some die during larval stage (with Mmp1²)

(Glasheen et al., 2009)

some die during pupal stage

(Siller and Broadie, 2011)

some die during third instar larval stage

(Siller and Broadie, 2011)

Phenotype Manifest In

embryonic/larval dorsal tracheal branch | third instar larval stage

(Glasheen et al., 2009)

embryonic/larval dorsal tracheal branch | third instar larval stage (with Mmp1²)

(Glasheen et al., 2009)

embryonic/larval tracheal dorsal trunk (with Mmp1²)

(Page-McCaw et al., 2003)

embryonic/larval tracheal section (with Mmp1²)

(Page-McCaw et al., 2003)

embryonic/larval tracheal transverse connective (with Mmp1²)

(Page-McCaw et al., 2003)

embryonic heart cardioblast

(Raza et al., 2017)

filopodium | embryonic stage

(Raza et al., 2017)

heart primordium

(Raza et al., 2017)

lamellipodium | embryonic stage

(Raza et al., 2017)

larva | third instar larval stage

(Page-McCaw et al., 2003)

larval intersegmental nerve branch ISNb of A1-7

(Miller et al., 2008)

larval intersegmental nerve branch ISNb of A1-7 (with Mmp1²)

(Miller et al., 2008)

larval segmental nerve branch SNa of A1-7

(Miller et al., 2008)

larval segmental nerve branch SNa of A1-7 (with Mmp1²)

(Miller et al., 2008)

taenidium | larval stage (with Mmp1²)

(Glasheen et al., 2010)

tracheal section

(Siller and Broadie, 2011)

Detailed Description

Statement

Reference

Mmp1^Q112stop/Mmp1^Q112stop mutant embryos exhibit defects in heart formation, with disorganized arrangement of cardioblasts; although cardioblasts do correctly migrate to the midline and do not show a significant decrease in migration velocity, they exhibit a significant decrease in the number of filopodia and lamellipodia at the leading edge. Formation of the lumen is also defective, with the cardioblasts adhering to their contralateral partners with extended cell junctions, and consequently the lumen is reduced in size, as compared to wild type.

(Raza et al., 2017)

75% of Mmp1^Q112stop mutant dorsal trachea exhibit gross deformation with an obvious tracheal break.

(Siller and Broadie, 2011)

Mmp1²/Mmp1^Q112stop mutants display a similar taenidial spacing at the early third instar stage compared to controls but a reduced intertaenidial distance compared to wild type by late third instar.

(Glasheen et al., 2010)

43% of Mmp1^Q112stop mutant third instar larvae display broken tracheal dorsal trunks. None survive to pupariation.

44% of Mmp1^Q112stop/Mmp1² transheterozygous mutant third instar larvae display broken tracheal dorsal trunks.

(Glasheen et al., 2009)

Most Mmp1^Q112stop mutants die during early larval stages. Mutants that do develop to pupae show normal development of the imaginal discs, trachea, and dorsal air sac primordium.

(Guha et al., 2009)

Heterozygous leg discs which are cut and then cultured in vivo for 48 hours form a blastema, as occurs in wild-type discs, but cell division still occurs in non-blastema cells.

(McClure et al., 2008)

ISNb pathfinding in Mmp1^Q112stop homozygous embryos is roughly wild type, though 50% of hemisegments display a loosely fasciculated ISNb morphology. SNa fasciculation is also decreased.

ISNb pathfinding in Mmp1^Q112stop/Mmp1² embryos is roughly wild type, though 28% of hemisegments display a loosely fasciculated ISNb morphology. SNa fasciculation is also decreased.

(Miller et al., 2008)

Some Mmp1^Q112stop mutants die during the second larval instar (about 30%), the rest die during the third larval instar, which lasts several days longer than in wild-type. Most Mmp1^Q112stop/Mmp1² animals survive to third instar (84%), but only 7% pupariate. All 7% undergo head eversion, but none eclose. The tracheal system phenotypes of Mmp1^Q112stop/Mmp1² larvae get more severe with age: 1. First instar: in small first instars larval trachea do not have quite as much slack as those of controls. This defect is more apparent in larger first instar larvae, where the tracheal system is visibly stretched and has no slack, especially along the transverse connectives. 20% (n = 25) of have breaks in their dorsal trunks, presumably caused by overstretching. 2. Second instar: shortened dorsal trunks; the posterior spiracles have moved inward; 44% (n = 62) have visible breaks in the dorsal trunks. 3. Third instar: The tracheal system is stretched dramatically toward the anterior of the animal, with prominent tracheal breaks in 42% (n = 52) and posterior spiracles separated from the surface of the cuticle in all. Mmp1^Q112stop/Mmp1² larvae are variable in size, but are always small than their wild-type siblings.

(Page-McCaw et al., 2003)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Mmp1^Q112stop has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by Mmp2^W307stop

(Miller et al., 2008)

Mmp1^Q112stop/Mmp1² has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by Mmp2^W307stop/Df(2R)Uba1-Mmp2

(Miller et al., 2008)

Mmp1^Q112stop/Mmp1² has partially lethal - majority die | larval stage phenotype, enhanceable by Mmp2^W307stop/Mmp2²¹⁸

(Page-McCaw et al., 2003)

Suppressed by

Statement

Reference

Mmp1^Q112stop has lethal - all die before end of pupal stage phenotype, suppressible by Fmr1^Δ50M

(Siller and Broadie, 2011)

Mmp1^Q112stop has some die during pupal stage phenotype, suppressible by Fmr1^Δ50M

(Siller and Broadie, 2011)

Mmp1^Q112stop has some die during third instar larval stage phenotype, suppressible by Fmr1^Δ50M

(Siller and Broadie, 2011)

Mmp1^Q112stop/Mmp1² has abnormal neuroanatomy | embryonic stage phenotype, suppressible by Sema1a^k13702/Sema-1a[+]

(Miller et al., 2008)

NOT suppressed by

Statement

Reference

Mmp1^Q112stop/Mmp1² has abnormal neuroanatomy | embryonic stage phenotype, non-suppressible by Sema1a^k13702/Sema-1a[+]

(Miller et al., 2008)

Enhancer of

Statement

Reference

Mmp1^Q112stop is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of Mmp2^W307stop

(Miller et al., 2008)

Mmp1^Q112stop/Mmp1² is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of Mmp2^W307stop/Df(2R)Uba1-Mmp2

(Miller et al., 2008)

Mmp1^Q112stop/Mmp1^Q112stop is an enhancer of partially lethal - majority die | larval stage phenotype of Mmp2^W307stop

(Page-McCaw et al., 2003)

NOT Enhancer of

Statement

Reference

Mmp1^Q112stop/Mmp1^Q112stop is a non-enhancer of abnormal cell shape | embryonic stage phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop/Mmp1^Q112stop is a non-enhancer of abnormal cell migration | embryonic stage phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop is a non-enhancer of abnormal neuroanatomy | embryonic stage phenotype of Mmp2^W307stop

(Miller et al., 2008)

Mmp1^Q112stop/Mmp1² is a non-enhancer of abnormal neuroanatomy | embryonic stage phenotype of Mmp2^W307stop/Df(2R)Uba1-Mmp2

(Miller et al., 2008)

Suppressor of

Statement

Reference

Mmp1^Q112stop is a suppressor of abnormal neuroanatomy | third instar larval stage phenotype of Fmr1^Δ50M

(Siller and Broadie, 2011)

NOT Suppressor of

Statement

Reference

Mmp1^Q112stop/Mmp1^Q112stop is a non-suppressor of abnormal cell shape | embryonic stage phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop/Mmp1^Q112stop is a non-suppressor of abnormal cell migration | embryonic stage phenotype of Mmp2^W307stop

(Raza et al., 2017)

Phenotype Manifest In

Enhanced by

Statement

Reference

Mmp1^Q112stop has larval segmental nerve branch SNa of A1-7 phenotype, enhanceable by Mmp2^W307stop

(Miller et al., 2008)

Mmp1^Q112stop/Mmp1² has larval segmental nerve branch SNa of A1-7 phenotype, enhanceable by Mmp2^W307stop/Df(2R)Uba1-Mmp2

(Miller et al., 2008)

Suppressed by

Statement

Reference

Mmp1^Q112stop has tracheal section phenotype, suppressible by Fmr1^Δ50M

(Siller and Broadie, 2011)

Mmp1^Q112stop/Mmp1² has larval segmental nerve branch SNa of A1-7 phenotype, suppressible by Sema1a^k13702/Sema-1a[+]

(Miller et al., 2008)

NOT suppressed by

Statement

Reference

Mmp1^Q112stop/Mmp1² has larval intersegmental nerve branch ISNb of A1-7 phenotype, non-suppressible by Sema1a^k13702/Sema-1a[+]

(Miller et al., 2008)

Enhancer of

Statement

Reference

Mmp1^Q112stop is an enhancer of larval segmental nerve branch SNa of A1-7 phenotype of Mmp2^W307stop

(Miller et al., 2008)

Mmp1^Q112stop/Mmp1² is an enhancer of larval segmental nerve branch SNa of A1-7 phenotype of Mmp2^W307stop/Df(2R)Uba1-Mmp2

(Miller et al., 2008)

NOT Enhancer of

Statement

Reference

Mmp1^Q112stop/Mmp1^Q112stop is a non-enhancer of heart primordium phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop/Mmp1^Q112stop is a non-enhancer of embryonic heart cardioblast phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop/Mmp1^Q112stop is a non-enhancer of filopodium | embryonic stage phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop/Mmp1^Q112stop is a non-enhancer of lamellipodium | embryonic stage phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop is a non-enhancer of larval intersegmental nerve branch ISNb of A1-7 phenotype of Mmp2^W307stop

(Miller et al., 2008)

Mmp1^Q112stop/Mmp1² is a non-enhancer of larval intersegmental nerve branch ISNb of A1-7 phenotype of Mmp2^W307stop/Df(2R)Uba1-Mmp2

(Miller et al., 2008)

Suppressor of

Statement

Reference

Mmp1^Q112stop is a suppressor of embryonic/larval neuromuscular junction | third instar larval stage phenotype of Fmr1^Δ50M

(Siller and Broadie, 2011)

Mmp1^Q112stop is a suppressor of NMJ bouton | increased number | third instar larval stage phenotype of Fmr1^Δ50M

(Siller and Broadie, 2011)

NOT Suppressor of

Statement

Reference

Mmp1^Q112stop/Mmp1^Q112stop is a non-suppressor of heart primordium phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop/Mmp1^Q112stop is a non-suppressor of embryonic heart cardioblast phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop/Mmp1^Q112stop is a non-suppressor of filopodium | embryonic stage phenotype of Mmp2^W307stop

(Raza et al., 2017)

Mmp1^Q112stop/Mmp1^Q112stop is a non-suppressor of lamellipodium | embryonic stage phenotype of Mmp2^W307stop

(Raza et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

The heart developmental defects observed in Mmp1^Q112stop/Mmp1^Q112stop, Mmp2^W307stop/Mmp2^W307stop double mutants are similar to those seen in Mmp2^W307stop/Mmp2^W307stop single mutants.

(Raza et al., 2017)

Homozygous Fmr1^Δ50M fully suppresses the tracheal defects seen in Mmp1^Q112stop mutant flies.

Homozygous Mmp1^Q112stop partially suppresses the NMJ defects seen in Fmr1^Δ50M mutant third instar larvae. Synaptic bouton number is strongly rescued and increased number of synaptic branches is suppressed.

(Siller and Broadie, 2011)

Mmp1^Q112stop,Mmp2^W307stop double mutant embryos show normal haemocyte migration into the tail region of the embryo.

(Siekhaus et al., 2010)

The formation of a regeneration blastema that is seen in the proximodistal portion of the leg disc after induction of wg^Act5C.PS expression in the early third larval instar still occurs at the normal time if the animals are also carrying Mmp1^Q112stop/+. However, the non-blastema cells (ventral leg cells) do not undergo cell-cycle arrest in the wing disc carrying Mmp1^Q112stop/+, in contrast to non-blastema cells in animals in which wg^Act5C.PS expression has been induced in an otherwise wild-type background.

The frequency of adults that show transdetermination (wing structures in the adult legs) after induction of wg^Act5C.PS 72 hours after egg deposition is increased to 42% if the animals are also carrying Mmp1^Q112stop/+.

(McClure et al., 2008)

ISNb axon guidance defects in Mmp2^W307stop Mmp1^Q112stop or Mmp2^W307stop/Df(2R)Uba1-Mmp2 Mmp1^Q112stop/Mmp1² double mutants qualitatively and quantitatively mirror the phenotypes observed in the Mmp2 single mutants.

SNa axon defasciculation in Mmp2^W307stop Mmp1^Q112stop or Mmp2^W307stop/Df(2R)Uba1-Mmp2 Mmp1^Q112stop/Mmp1² double mutants is significantly increased relative to that of either single mutant.

(Miller et al., 2008)

The larval lethality due to Mmp1^Q112stop/Mmp1² is enhanced by Mmp2²¹⁸/Mmp2^W307stop from 84% survival to 3rd instar and 7% pupariating to 54% survival to 3rd instar and 4% pupariating. The larval lethality of Mmp1^Q112stop; Mmp2^W307stop double homozygotes (73% survive to 2nd instar, 35% to 3rd instar, and none pupariate) is greater than for either single homozygote.

(Page-McCaw et al., 2003)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

59380

w^*; Mmp1^Q112stop/CyO-Df(2R)B80, y⁺

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (8)

Reported As

Symbol Synonym

MMP1^Q112*

(Matsubayashi et al., 2020)

Mmp1^Q112*

(Miller et al., 2011, Glasheen et al., 2010, Glasheen et al., 2009, Miller et al., 2008, Page-McCaw et al., 2003)

Mmp1^Q112

(Sauerwald et al., 2019, McClure et al., 2008)

Mmp1^Q112stop

Mmp2^Q112

(Guha et al., 2009)

mmp1^Q112*

(Dear et al., 2016)

mmp1^Q112

(Raza et al., 2017, Siller and Broadie, 2011, Siekhaus et al., 2010)

mmp1^Q112X

(Kanda et al., 2019)

Name Synonyms

Secondary FlyBase IDs

References (14)

Report Sections

Open Close