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 3247 in exon 28 of the cDNA (NM_134013:c.A3247G). This changes the isoleucine residue to valine at position 1083 of the encoded protein (p.I1083V). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Psme4b2b1508Clo, 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