C3H(B6)-Gna11m1H/H

Status

Available to order

EMMA IDEM:15293
Citation informationRRID:IMSR_EM:15293 

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International strain nameC3H(B6)-Gna11m1H/H
Alternative nameC3H;B6-Gna11m1H/H (GNA11-D195G-C3, Gna11 (D195G))
Strain typeInduced Mutant Strains : Chemically-induced
Allele/Transgene symbolGna11m1H
Gene/Transgene symbolGna11

Information from provider

ProviderRaj Thakker
Provider affiliationAcademic Endocrine Unit, University of Oxford
Genetic informationOriginal 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 informationHomozygous:
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 historyOriginal 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
  • Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.;Howles Sarah A, Hannan Fadil M, Gorvin Caroline M, Piret Sian E, Paudyal Anju, Stewart Michelle, Hough Tertius A, Nesbit M Andrew, Wells Sara, Brown Stephen Dm, Cox Roger D, Thakker Rajesh V, ;2017;JCI insight;2;; 29046478
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • decreased circulating phosphate level / IMPC
  • decreased erythrocyte cell number / IMPC
  • decreased hemoglobin content / IMPC
  • decreased mean corpuscular volume / IMPC
  • decreased bone mineral density / IMPC
  • increased circulating alanine transaminase level / IMPC
  • increased circulating calcium level / IMPC
  • increased startle reflex / IMPC
  • increased red blood cell distribution width / IMPC
  • vertebral fusion / IMPC
  • decreased hematocrit / IMPC
  • increased bone mineral content / IMPC
  • abnormal behavior / IMPC
  • decreased circulating triglyceride level / IMPC
  • decreased circulating amylase level / IMPC
  • thrombocytopenia / IMPC
MGI phenotypes (gene matching)
  • increased foot pad pigmentation / MGI
  • hyperpigmentation / MGI
  • increased circulating triglyceride level / MGI
  • hepatic steatosis / MGI
  • nervous system phenotype / MGI
  • darkened coat color / MGI
  • decreased susceptibility to type I hypersensitivity reaction / MGI
  • increased liver triglyceride level / MGI
  • increased tail pigmentation / MGI
  • increased ear pigmentation / MGI

Literature references

  • Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.;Howles Sarah A, Hannan Fadil M, Gorvin Caroline M, Piret Sian E, Paudyal Anju, Stewart Michelle, Hough Tertius A, Nesbit M Andrew, Wells Sara, Brown Stephen Dm, Cox Roger D, Thakker Rajesh V, ;2017;JCI insight;2;; 29046478

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*
  • Tissue - Types of tissue, service fee and delivery time available upon request

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