A neo was inserted into exon 2, and a portion of the 3' coding sequence of exon 2 was deleted in the beta2 isoform. Northern blot indicated absence of transcript in brain, liver, lung, testes and ovaries of mutant mice. (J:90150)
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