The majority of exon 2, which encodes the basic helix-loop-helix domain, was replaced with a cassette containing both IRES-lacZ and neo genes. Transcript was undetected by RT-PCR analyses of homozygous mutant embryos. Weak expression of beta-galactosidase, putatively due to the inefficiency of the IRES, showed the pattern of expression to recapitulate that of the endogenous gene. (J:63415)
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