A neomycin selection cassette was inserted into exon 6. Northern blot and RT-PCR analysis indicated that aberrant in-frame splice transcripts lacking exon 6, exons 5 and 6 or exons 6 and 7 are expressed from this allele. Mutant proteins with partial function are predicted to be expressed suggesting that this allele is a hypomorph. (J:112169)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count