This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a A-to-T substitution at position 60085088 after nucleotide 18 (c.18A>T). The mutant phenotype is attributed to a mutation in the Ica1l gene. (J:175213)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count