A frameshift mutation, resulting from the insertion of a neomycin selection cassette into exon 1, introduced a stop codon at position 44. The absence of encoded protein in homozygous mutant mice was determined by Western blot analysis. (J:77630)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count