This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is an A to G substitution at nucleotide +4 following coding nucleotide 343 (c.343+4A>G, NM_172769) of intron 4. This may affect splicing from the nearby splice donor site. (J:175213)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count