A single G nucleotide insertion into a string of 6 guanines within exon 2 causes a frame shift with the first 227 amino acids normal, followed by 9 altered amino acids then a premature stop codon. (J:184204)
Basic Information
NOD.Cg-Prkdcscid H2-K1b-tm1Bpe H2-D1b-tm1Bpe/Sz
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count