Insertion of an IRES-LacZ sequence followed by a PGK-neomycin resistance cassette into exon 5, which encodes the phosphotyrosine binding (PTB) domain. The authors predict that this insertion would cause the mutant allele to terminate translation within the PTB domain. Western blot analysis and immunoprecipitation studies did not detect wild-type protein in 4 week old homozygous mutant brain. (J:66508)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Disruption caused by insertion of 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

Title
PMID
Journal
Year
IF
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