FlyBase Allele Report: Dmel\cbc[T7-1]

General Information

Symbol

Dmel\cbc^T7-1

Species

D. melanogaster

Name

FlyBase ID

FBal0221669

Feature type

allele

Associated gene

Dmel\cbc

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

loss of function allele

(Kaufman, 2009.6.18)

Mutagen

ethyl methanesulfonate

(Kaufman, 2009.6.18)

Progenitor genotype

Cytology

Description

Amino acid replacement: A37T.

(Kaufman, 2009.6.18)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:13,485,108..13,485,108 [-]

Nucleotide change:

G13485108A

Amino acid change:

A37T | cbc-PA

Reported amino acid change:

A37T

Comment:

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

(Kaufman, 2009.6.18)

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 ( 1 )

Disease

Evidence

References

model of pontocerebellar hypoplasia type 10

CEA

(Schmidt et al., 2022)

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 locomotor behavior | third instar larval stage

(Schmidt et al., 2022)

abnormal neuroanatomy | third instar larval stage

(Schmidt et al., 2022)

decreased size | third instar larval stage

(Schmidt et al., 2022)

increased cell death | third instar larval stage

(Schmidt et al., 2022)

lethal - all die before end of larval stage (with cbc^T13-5)

(Schmidt et al., 2022)

lethal - all die before end of P-stage

(Schmidt et al., 2022)

majority die during P-stage

(Schmidt et al., 2022)

Phenotype Manifest In

larval brain | third instar larval stage

(Schmidt et al., 2022)

Detailed Description

Statement

Reference

cbc^T7-1 homozygous third instar larvae exhibit decreased crawling ability. Their brain lobes are smaller and exhibit increased apoptosis.

(Schmidt et al., 2022)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

cbc^T7-1 is rescued by cbc^{UAS.ORF.GW.Tag:HA}/Scer\GAL4^da.G32

(Schmidt et al., 2022)

Partially rescued by

cbc^T7-1/cbc^T13-5 is partially rescued by cbc^{UAS.ORF.GW.Tag:HA}/Scer\GAL4^da.G32

(Schmidt et al., 2022)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

27620

w¹¹¹⁸; cbc^T7-1/SM5

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

cbc¹

(Schmidt et al., 2022)

cbc^A37T

(Wu et al., 2021)

cbc^T7-1

(Kaufman, 2009.6.18)

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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