A spontaneous mutation in C57BL/6 mice deleted 1001 bp spanning exons 3 to 8. The resulting frame-shift mutation caused an amino acid substitution from amino acid 83 and the following amino acids until premature termination at amino acid 124. Western blot analysis using a C-terminal antibody confirmed the absence of full-length protein in the cerebella. (J:222504)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count