This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substituation at coding nucleotide 1904 of the cDNA (c.1904T>A, NM_175168). This changes the isoleucine residue to asparagine at position 635 of the encoded protein (p.I635N). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ptk7b2b2445Clo, 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