A T to C transition in codon 919, the equivalent codon to human 918, resulted in a protein which encoded threonine instead of methionine at this position (M919T). Silent mutations in codons 920 and 921 abolished a MunI endonuclease site. A loxP flanked neomycin cassette was inserted into an adjacent intron. (J:60659)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count