Approximately 10 copies of a tyrosinase minigene (consisting of the Tyr distal enhancer in the reverse orientation upstream of the proximal promoter and 5 UTR and complete cDNA of the Tyr transcript and 3 UTR) inserted in a 2,327-bp deletion in the last intron of Fam172a. This Toupee line was generated in a forward genetic screen aimed at identifying genes with key roles in neural crest cells. RT-qPCR shows that Fam172a expression is down-regulated, down to approximately 15% on average, indicating a hypomorphic allele. No significant change in transcript expression is seen for the other genes flanking the insertion (Pou5f2, Nr2f1, and A830082K12Rik). (J:260599)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count