This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substitution at coding nucleotide 2440 in exon 20 of the cDNA (c.2440T>C, NM_138595). This changes the serine residue to proline at position 814 of the encoded protein (p.S814P). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Gldcb2b2679Clo, and may be present in stocks carrying this mutation.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count