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Allele : C1qtnf5<tm1.1Geno> C1q and tumor necrosis factor related protein 5; targeted mutation 1.1, Genoway

Primary Identifier  MGI:5309003 Allele Type  Targeted
Attribute String  Humanized sequence Gene  C1qtnf5
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 14 was replaced with a loxP site and a modified exon 14 in which a C to G transversion results in the amino acid substitution of arginine for serine at position 163 (S163R). An FRT-flanked neo cassette with a 3' loxP site was inserted downstream of the modified exon 14. This mutation is found in Late-Onset Retinal Macular Degeneration (L-ORMD) patients. Flp-mediated recombination removed the neo cassette.
  • mutations:
  • Single point mutation,
  • Insertion
  • synonyms:
  • C1qtnf5<Ser163Arg>,
  • C1qtnf5<Ser163Arg>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele