The mutation in the nob mouse was identified as an 85 bp deletion in exon 3 of the gene. The deletion results in a frame shift that adds 170 unique amino acids to 188 amino acids from the amino terminus of the protein. This results in the loss of 288 amino acids fro the carboxyl terminus of the protein including seven leucine rich repeats. (J:81028)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count