This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at coding nucleotide 1138 in exon 9 of the cDNA (c.1138A>G, NM_134126). This changes the asparagine residue to aspartic acid at position 380 of the encoded protein (p.N380D). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Ift140b2b1283Clo, 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