Exon 6, which encodes residues 216 through 267, was replaced with a floxed neo cassette inserted by homologous recombination. Transcript was undetected by Northern blot analysis of RNA obtained from homozygous mutant testes. Similarly, Western blot analysis of extracts from homozygous mutant brain tissue indicated an absence of normal protein. (J:86616)
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