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
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Disruption caused by insertion of vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count