C3;102-Casr^Nuf/H

Status	Available to order
EMMA ID	EM:01298
International strain name	C3;102-Casr^Nuf/H
Alternative name	Nuf-F
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Casr^Nuf,
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	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

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI allele-associated human disease models

autosomal dominant hypocalcemia 1 / DOID:0090107

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

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

Order

Availabilities

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

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
MTA will be issued after an order has been submitted.

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Legally binding conditions for the transfer

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C3;102-CasrNuf/H