Exon 1 of this gene was replaced with a PGK-neo cassette via homologous recombination resulting in the deletion of the first 121 amino acids, which includes the intracellular N terminus, the first transmembrane domain, and a portion of the extracellular domain. Immunoprecipitation and Western blot analysis failed to detect protein in extracts from brain and hippocampus of homozygous mutant animals. (J:76361)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count