This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The mutant phenotype is attributed to a G to A substitution at coding nucleotide position 295 in exon 2 of the cDNA (c.295G>A, NM_009911). This changes the aspartic acid residue to asparagine at position 99 of the encoded protein (p.D99N). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Cxcr4b2b220Clo, 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