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 1071 (c.1071+2T>A, NM_001033385) in intron 9. This changes splice donor site G-GT to G-GA (which is assumed to be inactive). (J:175213) Additional incidental mutations were detected in sequencing for the causative mutation, Tbc1d32b2b2284Clo, 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