Exon 4 was replaced with a version containing an AAC>GGA substitution, changing asparagine codon 176 to a glycine codon (p.N138G on mature peptide, p.N176G on prepropeptide). A loxP site flanked neomycin resistance gene and STOP cassette was inserted into intron 2, creating a null allele. (J:249558)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count