FlyBase Allele Report: Dmel\mbl[E16]

General Information

Symbol

Dmel\mbl^E16

Species

D. melanogaster

Name

FlyBase ID

FBal0088805

Feature type

allele

Associated gene

Dmel\mbl

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

P-element activity

Nature of the Allele

Allele class

Mutagen

P-element activity

(Artero et al., 1998)

Progenitor genotype

P{PZ}mbl⁰¹⁰³⁸

(Artero et al., 1998)

Cytology

Description

Imprecise excision of the P{PZ} insertion of mbl⁰¹⁰³⁸.

(Artero et al., 1998)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

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

exacerbates autosomal dominant cerebellar ataxia

modeled by Hsap\ATXN8OS^CTG112.UAS

(Mutsuddi et al., 2004)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

lethal - all die during embryonic stage (with mbl^E27)

(Vicente et al., 2007, Monferrer and Artero, 2006)

lethal - all die during embryonic stage | recessive

(Artero et al., 1998)

some die during embryonic stage (with mbl^E27)

(Vicente et al., 2007, Monferrer and Artero, 2006)

some die during embryonic stage | recessive

(Artero et al., 1998)

Phenotype Manifest In

abdomen | embryonic stage (with mbl^E27)

(Monferrer and Artero, 2006)

I band

(Artero et al., 1998)

striated muscle myosin thick filament

(Artero et al., 1998)

striated muscle thin filament

(Artero et al., 1998)

tendon cell

(Artero et al., 1998)

Detailed Description

Statement

Reference

mbl^E16/mbl^E27 embryos have a hypercontracted abdomen.

(Monferrer and Artero, 2006)

Mutants die as stage 17 embryos or during hatching and show no obvious defects in the formation of somatic and visceral muscles. At the end of embryogenesis embryos are severely paralysed, only twitching movements can be observed and their abdominal segments are strongly contracted. syt staining reveals the neuromuscular junctions can assemble normally. The extracellular tendon matrix (TM) is severely reduced, the muscles are forced to compete for epidermal surface at the segment border. At the ultrastructural level the thick and thin filaments are less ordered and dense in muscles, I-bands are absent, Z-bands are absent and instead only spindle-like concentrations of dark thin fibers can be seen.

(Artero et al., 1998)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

mbl^E16/mbl^E27 has lethal | embryonic stage phenotype, suppressible | partially by Hsap\MBNL1^UAS.cGCa/Scer\GAL4^da.G32

(Vicente et al., 2007, Monferrer and Artero, 2006)

mbl^E16/mbl^E27 has lethal | embryonic stage phenotype, suppressible | partially by Hsap\MBNL1^UAS.cGCa/Scer\GAL4^Mef2.PR

(Vicente et al., 2007)

Enhancer of

Statement

Reference

mbl^E16 is an enhancer of abnormal neuroanatomy phenotype of Hsap\ATXN8OS^CTG112.UAS, Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

Phenotype Manifest In

Suppressed by

Statement

Reference

mbl^E16/mbl^E27 has abdomen | embryonic stage phenotype, suppressible | partially by Hsap\MBNL1^UAS.cGCa/Scer\GAL4^da.G32

(Monferrer and Artero, 2006)

Enhancer of

Statement

Reference

mbl^E16 is an enhancer of ommatidium phenotype of Hsap\ATXN8OS^CTG9.UAS, Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

mbl^E16 is an enhancer of eye photoreceptor cell phenotype of Hsap\ATXN8OS^CTG112.UAS, Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

mbl^E16 is an enhancer of pigment cell phenotype of Hsap\ATXN8OS^CTG112.UAS, Scer\GAL4^GMR.PF

(Mutsuddi et al., 2004)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The embryonic lethality of mbl^E16/mbl^E27 animals is partially rescued by expression of Hsap\MBNL^{Scer\UAS.cGCa} under the control of Scer\GAL4^da.G32; 78.9% of the embryos hatch.

The embryonic lethality of mbl^E16/mbl^E27 animals is only slightly rescued by expression of Hsap\MBNL^{Scer\UAS.cGCa} under the control of Scer\GAL4^Mef2.PR; 18.0% of the embryos hatch.

(Vicente et al., 2007)

78.14% of mbl^E16/mbl^E27 embryos expressing Hsap\MBNL^{Scer\UAS.cGCa} under the control of Scer\GAL4^da.G32 hatch into larvae (in contrast to 0% of mbl^E16/mbl^E27 embryos) and the hypercontracted abdomen phenotype is greatly reduced.

(Monferrer and Artero, 2006)

Complementation and Rescue Data

Partially rescued by

mbl^E16/mbl^E27 is partially rescued by mbl^C.UAS/Scer\GAL4^da.G32

(Vicente et al., 2007)

mbl^E16/mbl^E27 is partially rescued by mbl^A.UAS/Scer\GAL4^da.G32

(Vicente et al., 2007)

mbl^E16/mbl^E27 is partially rescued by mbl^B.UAS/Scer\GAL4^da.G32

(Vicente et al., 2007)

mbl^E16/mbl^E27 is partially rescued by mbl^C.UAS/Scer\GAL4^Mef2.PR

(Vicente et al., 2007)

mbl^E16/mbl^E27 is partially rescued by mbl^C.UAS/Scer\GAL4^da.G32