FlyBase Allele Report: Dmel\Cam[3c1]

General Information

Symbol

Dmel\Cam^3c1

Species

D. melanogaster

Name

FlyBase ID

FBal0083600

Feature type

allele

Associated gene

Dmel\Cam

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

hypomorphic allele - genetic evidence

(Harrisingh et al., 2007, Arredondo et al., 1998)

Mutagen

ethyl methanesulfonate

(Nelson et al., 1997)

Progenitor genotype

Cytology

Description

Amino acid replacement: E31K.

(Arredondo et al., 1998)

Amino acid replacement: E31K. FlyBase curator comment: The Figure shows lesion as an E to K change. The Figure Legend incorrectly reports a Q to K change.

(Nelson et al., 1997)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:12,264,833..12,264,833 [+]

Nucleotide change:

G12264833A

Amino acid change:

Reported amino acid change:

E31K

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.

(Arredondo et al., 1998)

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal behavior

(Arredondo et al., 1998, Nelson et al., 1997)

abnormal flight

(Arredondo et al., 1998)

abnormal locomotor behavior

(Arredondo et al., 1998)

abnormal neuroanatomy (with Camⁿ³³⁹)

(Arredondo et al., 1998)

flightless

(Nelson et al., 1997)

lethal | recessive

(Nelson et al., 1997)

uncoordinated (with Camⁿ³³⁹)

(Arredondo et al., 1998)

Phenotype Manifest In

bouton & abdominal 2 ventral longitudinal muscle 2

(Arredondo et al., 1998)

bouton & abdominal 3 ventral longitudinal muscle 2

(Arredondo et al., 1998)

bouton & abdominal 4 ventral longitudinal muscle 2

(Arredondo et al., 1998)

bouton & abdominal 5 ventral longitudinal muscle 2

(Arredondo et al., 1998)

bouton & abdominal 6 ventral longitudinal muscle 2

(Arredondo et al., 1998)

bouton & abdominal 7 ventral longitudinal muscle 2

(Arredondo et al., 1998)

mesothoracic tergum

(Nelson et al., 1997)

wing vein | ectopic

(Nelson et al., 1997)

Detailed Description

Statement

Reference

Cam^3c1 heterozygotes exhibit little effect on the average period of free-running.

(Harrisingh et al., 2007)

Cam^3c1/Camⁿ³³⁹ flies exhibit reduced locomotion, coordination and flight ability. A slight dominant effect can be detected for both Cam^3c1 and Camⁿ³³⁹. The recessive mutant effects are more substantial. In the larval neuromuscular junction voltage clamp preparation, working on muscle 6, ejc amplitude for Cam^3c1/Camⁿ³³⁹ is normal. Ejc amplitude is increased approximately three fold by quinidine at low external calcium concentrations (at 0.4mM external calcium quinidine has no effect. The mejc amplitude and frequency is unchanged, suggesting the increase in ejc reflects increased neurotransmitter release. Cam^3c1/Camⁿ³³⁹ larvae show structural synaptic abnormalities: the terminal arbor forms a thickened, or large, misshapen structure with few distinct boutons. This results in a reduced number of boutons and a nearly complete lack of terminal branching in pleural external longitudinal muscle 13. Muscle 13 shows the same ejc phenotype as ventral internal longitudinal muscle 6. No abnormalities in nerve terminals on muscles ventral internal longitudinal muscle 6, 7 or pleural external longitudinal muscle 12 have been observed. Cam^3c1/Cam^3c1 homozygous larvae show normal synaptic transmission, even in the presence of quinidine, and normal structure of synaptic boutons.

(Arredondo et al., 1998)

Electrophysiological and physiological defects. Mutation has a detectable maternal effect on egg hatch rate. Mutation may also interfere with male mating behaviour. Transheterozygous combinations with other Cam mutations produces an incompletely penetrant ectopic wing vein phenotype and either lateral or bilateral cuticular 'scabs' on the notum.

(Nelson et al., 1997)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Other

Statement

Reference

Cam^3c1, l(2)C43^C43 has partially lethal phenotype

(Nelson et al., 1997)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

In combination with l(2)C43^C43 mutants exhibit markedly reduced viability.

(Nelson et al., 1997)

Xenogenetic Interactions

Statement

Reference

A heterozygous Cam^3c1 background in flies expressing Mmmm\PV^{Scer\UAS.T:Hsap\MYC} under the control of Scer\GAL4^P2.4.Pdf has no effect on the length of the free-running period, compared to controls, after 1-5 weeks in constant darkness.

(Harrisingh et al., 2007)

Complementation and Rescue Data

Partially complements

Camⁿ³³⁹

(Nelson et al., 1997)

Cam^4c1

(Nelson et al., 1997)

Cam⁵

(Nelson et al., 1997)

Cam^6c4

(Nelson et al., 1997)

Cam⁷

(Nelson et al., 1997)

Cam^8t

(Nelson et al., 1997)

Rescued by

Cam^3c1/Camⁿ³³⁹ is rescued by Cam^hs.PA

(Arredondo et al., 1998)

Cam^3c1 is rescued by Cam^hs.PN

(Nelson et al., 1997)

Comments

Defects can be completely rescued by expression of Cam^hs.PN.

(Nelson et al., 1997)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

6811

Cam^3c1 L²/CyO, amos^Roi-1 bw¹

Notes on Origin

Discoverer

Comments

The Cam^3c1 mutation might effect Ca²⁺ buffering or interfere with the activation or inhibition of a calmodulin target distinct from that encoded by CaMKII or calmodulin activated adenylyl cyclase, rut.

(Arredondo et al., 1998)

Allelic series of the relative strength of the lethal mutations: Cam^8t > Cam⁷ > Cam^6c4 > Cam⁵ > Cam^4c1 > Cam^3c1.

(Nelson et al., 1997)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

Cam^3c1

(Harrisingh et al., 2007)

Name Synonyms

Secondary FlyBase IDs

References (3)

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