A point mutation was introduced that altered codon 101 from one encoding histidine to one encoding arginine (H101R). A loxP flanked neomycin selection cassette was also inserted into the locus and was subsequently removed via Cre mediated recombination for the final allele. (J:109259)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count