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Allele : Umod<tm1.1Odev> uromodulin; targeted mutation 1.1, Oliver Devuyst

Primary Identifier  MGI:7563973 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Umod
Transmission  Germline Strain of Origin  C57BL/6N
Is Recombinase  false Is Wild Type  false
molecularNote  A G to A change at position 512 (c.G512A) resulting in a cysteine to tyrosine substitution at amino acid 171 (p.C171Y) was introduced in the cysteine-rich domain. An FRT-flanked neomycin resistance cassette was also inserted and was removed via flp-mediated recombination. This corresponds to the C170Y mutation identified in individuals with late-onset autosomal dominant tubulointerstitial kidney disease.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • Umod<C171Y>,
  • Umod<C171Y>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories