This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to C substituation at coding nucleotide 12694 in exon 82 of the cDNA (c.12694T>C, NM_008512). This changes the cysteine residue to arginine at position 4232 of the encoded protein (p.C4232R). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Lrp1b2b1554Clo, 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