A genomic fragment, encompassing a portion of exon 1 and all of exons 2 through 4, was replaced with a neomycin selection cassette inserted by homologous recombination. 86 bp of the exon 1 coding region, as well as the coding region of exon 5, were left intact, however no protein was detected in homozygous mutant retinal tissue by immunofluorescence. (J:88182)
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