Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Casrtm1Ces
Name:	calcium-sensing receptor; targeted mutation 1, Christine Seidman
MGI ID:	MGI:2176758
Synonyms:	CaR-, Casr-
Gene:	Casr  Location: Chr16:36314058-36382503 bp, - strand  Genetic Position: Chr16, 25.57 cM
Alliance:	Casrtm1Ces page

Germline Transmission:	Earliest citation of germline transmission: J:29900
Parent Cell Line:	C1 (ES Cell)
Strain of Origin:	129X1/SvJ

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A neomycin resistance gene was inserted into exon 4. Western blot analysis on kidney protein membrane extracts from homozygous mice confirmed that no detectable protein is expressed from this allele. RT-PCR analysis of chondrocytes from homozygous mice detected the presence of a smaller transcript lacking exon 5. In addition protein expression is detected in the growth plates of homozygous mice. (J:29900, J:129678)

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	6 assay results
In Structures Affected by this Mutation:	8 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Casr Mutation:	55 strains or lines available

Original:	J:29900 Ho C, et al., A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism [see comments]. Nat Genet. 1995 Dec;11(4):389-94
All:	32 reference(s)