The C1 mutation was introduced into exon 7 of the locus. This mutation contains the K233Q, K235Q, and R236Q substitutions. A floxed neo was inserted into intron 6 and subsequently removed via cre mediated recombination. (J:123299)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count