IMPC phenotypes (gene matching)
C3;102-CasrNuf/H
| Status | Available to order |
| EMMA ID | EM:01298 |
| 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 |
|
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