IMPC phenotypes (gene matching)
C3H;B6-Xdhrenf/H
| Status | Available to order |
| EMMA ID | EM:08405 |
| Citation information | RRID:IMSR_EM:08405 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 | C3H;B6-Xdhrenf/H |
| Alternative name | RENF |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Xdhrenf |
| Gene/Transgene symbol | Xdh |
Information from provider
| Provider | Chris Esapa |
| Provider affiliation | MRC Harwell |
| Additional owner | MRC Harwell |
| Genetic information | Nonsense mutation at codon 26 of the xanthine dehydrogenase (Xdh) gene. |
| Phenotypic information | Homozygous:Renal failure (RENF) mice, at 3 weeks of age, are smaller and weigh less than their unaffected littermates, whereas at birth, RENF mice and their unaffected littermates have the same size. They fail to thrive and do not live beyond 5-9 weeks of age. They have elevated plasma urea, creatinine, calcium and alkaline phosphatase.Heterozygous:None |
| Breeding history | The material stored is sperm from the original mutant: the offspring of C57BL/6J male that received ENU mated to a C3H female. |
| References |
|
| Homozygous fertile | not known |
| 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
- Xanthinuria type I / Orphanet_93601
MGI phenotypes (allele matching)
- increased circulating calcium level / MGI
- abnormal kidney cortex morphology / MGI
- premature death / MGI
- abnormal renal tubule morphology / MGI
- dilated renal tubules / MGI
- increased circulating alkaline phosphatase level / MGI
- small kidney / MGI
- renal interstitial fibrosis / MGI
- increased activity of parathyroid / MGI
- increased circulating creatinine level / MGI
- increased blood urea nitrogen level / MGI
- slow postnatal weight gain / MGI
- decreased blood uric acid level / MGI
- abnormal renal tubule epithelium morphology / MGI
MGI phenotypes (gene matching)
- increased circulating calcium level / MGI
- abnormal kidney cortex morphology / MGI
- abnormal kidney development / MGI
- abnormal skeletal muscle morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal lactation / MGI
- premature death / MGI
- abnormal lipid homeostasis / MGI
- abnormal kidney morphology / MGI
- abnormal renal tubule morphology / MGI
- dilated renal tubules / MGI
- increased circulating alkaline phosphatase level / MGI
- small kidney / MGI
- renal interstitial fibrosis / MGI
- increased activity of parathyroid / MGI
- kidney failure / MGI
- oxidative stress / MGI
- abnormal milk composition / MGI
- pale kidney / MGI
- hypoxia / MGI
- increased triglyceride level / MGI
- abnormal renal glomerulus morphology / MGI
- homeostasis/metabolism phenotype / MGI
- increased circulating creatinine level / MGI
- increased blood urea nitrogen level / MGI
- abnormal mammary gland growth during lactation / MGI
- abnormal involution of the mammary gland / MGI
- slow postnatal weight gain / MGI
- increased circulating amylase level / MGI
- decreased blood uric acid level / MGI
- decreased abdominal adipose tissue amount / MGI
- abnormal renal tubule epithelium morphology / MGI
- abnormal blood homeostasis / MGI
- abnormal urine homeostasis / MGI
- crystalluria / MGI
- decreased total body fat amount / MGI
- postnatal lethality, complete penetrance / MGI
- tubulointerstitial nephritis / MGI
Literature references
- A mouse model of early-onset renal failure due to a xanthine dehydrogenase nonsense mutation.;Piret Sian E, Esapa Christopher T, Gorvin Caroline M, Head Rosie, Loh Nellie Y, Devuyst Olivier, Thomas Gethin, Brown Steve D M, Brown Matthew, Croucher Peter, Cox Roger, Thakker Rajesh V, ;2012;PloS one;7;e45217; 23024809