This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at coding nucleotide 6612 in exon 39 of the cDNA (c.6612T>A, NM_001033385). This changes the tyrosine residue to a translation stop at position 2204 of the encoded protein (p.Y2204*). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Lrp2b2b2671Clo, and may be present in stocks carrying this mutation.
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count