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 973 in exon 4 of the cDNA (c.973T>A, NM_152944). This changes the tyrosine residue to asparagine at position 325 of the encoded protein (p.Y325N). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Mmp21b2b2458Clo, 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