This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. The molecular lesion is a T to A substitution at nucleotide +2 after coding nucleotide 387 (c.387+2T>A, NM_027376.3) in intron 4. This changes splice donor site G-GT to G-GA (which is assumed to be much less efficient). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Fuzb2b1273Clo, 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