Exon 2 was replaced with one in which an A to G transition results in an amino acid substitution of arginine for lysine at position 42 (K42R). This mutation abolishes the kinase activity of the protein product, as determined by enzymatic assays. A floxed neo cassette inserted downstream of exon 2 was removed by transient cre expression in ES cells. (J:150046)
Basic Information
(C57BL/6NCrlj x CBA/JNCrlj)F1
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count