Arb2a^{Tg(Tyr)TpNpin}
Transgenic Allele Detail

Summary

• Symbol: Arb2a^{Tg(Tyr)TpNpin}
• Name: ARB2 cotranscriptional regulator A; transgene insertion Tp, Nicolas Pilon
• MGI ID: MGI:7429117
• Synonyms: Fam172a^Tp, Toupee, Toupee^Tg
• Gene: Arb2a Location: Chr13:77856799-78314359 bp, + strand Genetic Position: Chr13, 41.29 cM, cytoband C1
• Alliance: Arb2a^{Tg(Tyr)TpNpin} page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Hypomorph, Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Arb2a^{Tg(Tyr)TpNpin} expresses 1 gene
  Transgene expresses:
  

  Organism	Expressed Gene	Note
  mouse	Tyr (MGI:98880)

• Mutation details: 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)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Arb2a Mutation: 28 strains or lines available

References

• Original: J:260599 Belanger C, et al., Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome. Proc Natl Acad Sci U S A. 2018 Jan 23;115(4):E620-E629
• All: 3 reference(s)