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

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
FVB/N
--
Insertion, Intragenic deletion
--
1
--
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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