IMPC phenotypes (gene matching)
STOCK Umodtm1.1Rvt/H
| Status | Available to order |
| EMMA ID | EM:14793 |
| Citation information | RRID:IMSR_EM:14793 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | STOCK Umodtm1.1Rvt/H |
| Alternative name | B6;129-Umodtm1.1Rvt/H |
| Strain type | Targeted Mutant Strains : Point mutation |
| Allele/Transgene symbol | Umodtm1.1Rvt |
| Gene/Transgene symbol | Umod |
Information from provider
| Provider | Raj Thakker |
| Provider affiliation | Academic Endocrine Unit, University of Oxford |
| Genetic information | The stock carries a Cys (TGT) to Arg (CGT) substitution at amino acid 125 in the Umod gene. Homologous recombination introduced the C125R mutation in exon 3 and a loxP-flanked neomycin resistance cassette in intron 2. The floxed neomycin cassette was removed via cre recombinase-mediated recombination. The C125R mutation alters the third cysteine residue of the calcium-binding epidermal growth factor-like domain 3 (Piret et al., Dis. Models Mech., 2017) |
| Phenotypic information | Homozygous:Stock carrying a mutation that models familial juvenile hyperuricaemic nephropathy (FJHN), an autosomal dominant disorder characterised by raised serum urate, reduced fractional excretion of uric acid (FEUA), a urine concentrating defect, and progressive renal failure. Homozygotes have raised plasma urea, creatine and alkaline phosphatase, reduced FEUA (fractional excretion of uric acid percentage). Homozygotes and heterozygotes have a low urine osmolality.Heterozygous:Stock carrying a mutation that models familial juvenile hyperuricaemic nephropathy (FJHN), an autosomal dominant disorder characterised by raised serum urate, reduced fractional excretion of uric acid (FEUA), a urine concentrating defect, and progressive renal failure. Homozygotes have raised plasma urea, creatine and alkaline phosphatase, reduced FEUA (fractional excretion of uric acid percentage). Homozygotes and heterozygotes have a low urine osmolality. |
| Breeding history | Umod was targeted in R1 ES cells. Chimaeras were crossed to C57BL/6 females. Carriers were then crossed to an actinb-cre stock offspring then crossed to C57BL/6. The resulting stock carries a Cys (TGT) to Arg (CGT) substitution at amino acid 125 in the Umod gene. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- UMOD-related autosomal dominant tubulointerstitial kidney disease / Orphanet_88950
Literature references
- A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.;Piret Sian E, Olinger Eric, Reed Anita A C, Nesbit M Andrew, Hough Tertius A, Bentley Liz, Devuyst Olivier, Cox Roger D, Thakker Rajesh V, ;2017;Disease models & mechanisms;10;773-786; 28325753