The targeting construct deleted a 1.2kb region surrounding the 0.7 kb MT2B2 locus (8.2 kb upstream of Cdk2ap1). The allele fails to produce the N-terminally truncated isoform of Cdk2ap1. (J:312811)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count