A single base substitution (A to G) of base pair 885 in exon 5 (ENSMUSE00000120178) was detected. This mutation results in an ACA (Thr)-to-GCA (Ala) change of amino acid 136. DHFR protein was essentially undetectable in homozygous embryos. (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count