This is a hypomorphic allele. A neomycin resistance cassette replaced 0.4 kb of sequence, including part of the exon encoding EGF repeat 14, the splice donor site at the 3' end of this exon, and 0.3 kb of intron. mRNA species are detected in homozygous mutant embryos that appear to be the result of inframe splicing around the neomycin cassette. Proteins derived from these transcripts are predicted to have a deletion of one or two EGF repeats. (J:67157)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count