The targeting construct inserted a floxed neomycin resistance cassette in intron 21 and exon 22 was modified with an A to C point mutation encoding the amino acid substitution of glutamic acid with alanine at position 988 (E988A). (J:340904)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count