The insertion of a PGK-neo cassette disrupted the exon encoding the phosphotyrosine binding (PTB) domain. Western blot analysis confirmed an absence of normal protein product in homozygous mutant mice. The presence of a truncated protein was noted and determined to be the result of an in-frame splicing event in which the targeted exon was deleted, thus all peptides produced from targeted alleles lacked the conserved residues within the PTB domain. (J:76895)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129S1/Sv-Oca2+ Tyr+ Kitl+
Targeted
Insertion
--
1
8
18

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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