IMPC phenotypes (gene matching)
C3;102-CasrNuf/H
| Status | Available to order |
| EMMA ID | EM:01298 |
| Citation information | RRID:IMSR_EM:01298 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 | C3;102-CasrNuf/H |
| Alternative name | Nuf-F |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | CasrNuf |
| Gene/Transgene symbol | Casr |
Information from provider
| Provider | Mary Lyon |
| Provider affiliation | MRC Mammalian Genetics Unit |
| Genetic information | Sequencing revealed a missense T-to-A transversion in the fourth transmembrane domain sequence, causing a leucine to glutamine substitution. Western blot showed a 167-kDa protein in both mutants and wild-types. |
| Phenotypic information | Small flecks in lens nucleus, difficult to see in heterozygotes, clearer in homozygotes. The Nuf mice also exhibit ectopic calcification, hypocalcemia, hyperphosphatemia, and inappropriately reduced levels of plasma parathyroid hormone. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Neonatal severe primary hyperparathyroidism / Orphanet_417
- Familial hypocalciuric hypercalcemia type 1 / Orphanet_93372
- Autosomal dominant hypocalcemia / Orphanet_428
MGI phenotypes (allele matching)
- decreased circulating calcium level / MGI
- cataract / MGI
- increased circulating phosphate level / MGI
- decreased circulating parathyroid hormone level / MGI
- premature death / MGI
- decreased urine phosphate level / MGI
- decreased urine calcium level / MGI
- calcinosis / MGI
- nephrocalcinosis / MGI
- calcified muscle / MGI
- tongue inflammation / MGI
MGI phenotypes (gene matching)
- delayed bone ossification / MGI
- decreased bone mineral density / MGI
- kyphoscoliosis / MGI
- increased circulating calcium level / MGI
- decreased circulating calcium level / MGI
- decreased circulating phosphate level / MGI
- decreased body weight / MGI
- decreased body size / MGI
- cataract / MGI
- dehydration / MGI
- aphagia / MGI
- abnormal posture / MGI
- increased circulating phosphate level / MGI
- postnatal growth retardation / MGI
- abnormal coat/hair pigmentation / MGI
- premature death / MGI
- increased hematocrit / MGI
- abnormal bone mineralization / MGI
- decreased urine phosphate level / MGI
- increased circulating parathyroid hormone level / MGI
- decreased circulating parathyroid hormone level / MGI
- abnormal postural reflex / MGI
- decreased urine calcium level / MGI
- enlarged parathyroid gland / MGI
- pigmented parathyroid gland / MGI
- rickets / MGI
- calcinosis / MGI
- nephrocalcinosis / MGI
- calcified muscle / MGI
- increased width of hypertrophic chondrocyte zone / MGI
- parathyroid gland hyperplasia / MGI
- lethargy / MGI
- renal/urinary system phenotype / MGI
- growth/size/body region phenotype / MGI
- endocrine/exocrine gland phenotype / MGI
- skeleton phenotype / MGI
- hematopoietic system phenotype / MGI
- increased circulating magnesium level / MGI
- postnatal lethality, complete penetrance / MGI
- abnormal parathyroid gland chief cell morphology / MGI
- tongue inflammation / MGI
Literature references
- Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification.;Hough Tertius A, Bogani Debora, Cheeseman Michael T, Favor Jack, Nesbit M Andrew, Thakker Rajesh V, Lyon Mary F, ;2004;Proceedings of the National Academy of Sciences of the United States of America;101;13566-71; 15347804
- Differential parathyroid and kidney Ca2+-sensing receptor activation in autosomal dominant hypocalcemia 1.;van Megen Wouter H, Tan Rebecca Siu Ga, Alexander R Todd, Dimke Henrik, ;2022;EBioMedicine;78;103947; 35313217