An A-to-T substitution in exon 7 of Coro1a in the gene locus resulted in an aspartic acid-to-valine substitution at residue 278. This residue is located at a contact surface predicted to be critical for the proper assembly and stability of the protein. Immunoblot analysis of total thymocytes showed that mutant cells had roughly one tenth as much protein as wild-type cells. This allele is considered to be a hypomorph allele. (J:141431)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6
Chemically induced
Nucleotide substitutions, Single point
Recessive
1
1
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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