C3H.B6-Gna11m1H/H
| Status | Available to order |
| EMMA ID | EM:15293 |
| International strain name | C3H.B6-Gna11m1H/H |
| Alternative name | C3H;B6-Gna11m1H/H (GNA11-D195G-C3, Gna11 (D195G)) |
| Strain type | Induced Mutant Strains : Chemically-induced |
| Allele/Transgene symbol | Gna11m1H, |
| Gene/Transgene symbol | Gna11 |
Information from provider
| Provider | Raj Thakker |
| Provider affiliation | Academic Endocrine Unit, University of Oxford |
| Genetic information | Original mutant was induced by N-ethyl-N-nitrosourea (ENU) in a C57BL/6J male subsequently mated to C3H/HeH female. DNA sequence analysis confirmed the mutant mice harbor a germline A-to-G transition at c.584A>G at codon 195 of the Galpha11 protein resulting in an Asp (D) to Gly (G) missense substitution. |
| Phenotypic information | Homozygous:Hypercalcaemia; raised plasma PTH in female heterozygotes and homozygotes and male homozygotes; hypophosphataemia and raised plasma alkaline phosphatase in female heterozygotes and homozygotes.Heterozygous:Hypercalcaemia; raised plasma PTH in female heterozygotes and homozygotes and male homozygotes; hypophosphataemia and raised plasma alkaline phosphatase in female heterozygotes and homozygotes. |
| Breeding history | Original mutant was induced in a C57BL/6J male subsequently mated to C3H/HeH female. Crossed a further 7 times to C3H/HeH before archiving. |
| References | None available |
| 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
- Phakomatosis cesioflammea / Orphanet_79483
- Phakomatosis cesiomarmorata / Orphanet_79484
- Uveal melanoma / Orphanet_39044
- Familial hypocalciuric hypercalcemia type 2 / Orphanet_101049
- Autosomal dominant hypocalcemia / Orphanet_428