A spontaneous mutation removes the A nucleotide at position 1220 (c.1220delA) in tyrosine codon 407. This mutation leads to a frame shift altering 37 amino acid before resulting in a premature stop codon and truncation of the protein product to 443 amino acids compared to the full-length 908 amino acids. The truncated protein lacks the fourth SH3 domain. (J:153369)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
B10.A-H2h4/(4R)SgDvEgJ
Spontaneous
Intragenic deletion
--
1
2
6

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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