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Phenotypes Associated with This Genotype
Genotype
MGI:2176761
Allelic
Composition
Casrtm1Ces/Casr+
Genetic
Background
involves: 129X1/SvJ * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Casrtm1Ces mutation (0 available); any Casr mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
N
• parathyroid glands from heterozygous mutants are of normal size and structure and display normal cell morphology

growth/size/body
N
• heterozygotes display no differences in physique, body weight or physical activity relative to wild-type

hematopoietic system
N
• heterozygotes display no differences in the mean hematocrit relative to wild-type

homeostasis/metabolism
• despite increased calcium serum levels, heterozygotes show a significant increase in serum parathyroid hormone (PTH) levels
• when fed with Ca2+ contents of 2.5%, 0.6% or 0.02% for 3 weeks, heterozygotes do alter PTH release on response to increases in dietary Ca2+, although the serum calcium concentration associated with a given level of PTH is higher in heterozygotes relative to wild-type
• heterozygotes show a benign elevation in serum Ca2+, both in serum total calcium and serum ionized calcium levels
• heterozygotes display an elevation in serum Mg2+ levels
• heterozygotes display hypocalciuria relative to wild-type

renal/urinary system
N
• heterozygous kidneys appear histologically and anatomically normal relative to wild-type
• heterozygotes display hypocalciuria relative to wild-type

skeleton
N
• heterozygotes do not display any skeletal abnormalities

Mouse Models of Human Disease
OMIM ID Ref(s)
Hypocalciuric Hypercalcemia, Familial, Type I; HHC1 145980 J:29900


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory