The mutation in the icbins mouse was identified as a G-to-T mutation that changed a cysteine to a phenylalanine at amino acid position 829 (p.C829F). This mutation affects a predicted extracellular loop containing 6 highly conserved cysteine residues. (J:79027)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count