The integration of a gene trap vector into the coding sequence of the endogenous allele resulted in an isoform specific disruption. Sequence analysis revealed that the insertion prevented the translation of the carboxy terminal SH3 domain, thereby affecting the isoform containing both SH3 domains and not the isoform that contains only the amino terminal SH3 domain. Western blot analysis of homozygous mutant mice showed the presence of two mutant isoforms structurally similar to the wild-type splice variant containing single the single SH3 domains but lacking a tyrosine at position 221 and having additional amino acids encoded from the gene trap vector splice acceptor sequence on the carboxyl terminus. (J:59071)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6NCrlj x CBA/JNCrlj)F1
Gene trapped
Insertion of gene trap vector
--
1
--
2

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

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PMID
Journal
Year
IF
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