|  Help  |  About  |  Contact Us

Allele : Umod<tm2.1Odev> uromodulin; targeted mutation 2.1, Oliver Devuyst

Primary Identifier  MGI:7563974 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 C to A change at position 556 (c.C556A) resulting in an arginine to serine substitution at amino acid 186 (p.R186S) was introduced in the zona pellucida C domain. An FRT-flanked neomycin resistance cassette was also inserted and was removed via flp-mediated recombination. This corresponds to the R185S mutation identified in individuals with early-onset autosomal dominant tubulointerstitial kidney disease.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • Umod<R186S>,
  • Umod<R186S>
Quick Links:
 
Quick Links:
 

1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele