This allele was identified by screening a bank of cryopreserved sperm and genomic DNA of G1 male progeny from an ENU Mutagenesis project (http://www.brc.riken.jp/lab/gsc/mouse/). A T to A transversion en exon 7 results in replacement of Aspartic Acid at codon 336 with Glutamic Acid. (J:197674)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count