Mouse Genome Informatics
ht
    Casrtm1Ces/Casr+
involves: 129X1/SvJ * Black Swiss
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
endocrine/exocrine glands
N
• parathyroid glands from heterozygous mutants are of normal size and structure and display normal cell morphology (J:29900)

growth/size/body
N
• heterozygotes display no differences in physique, body weight or physical activity relative to wild-type (J:29900)

hematopoietic system
N
• heterozygotes display no differences in the mean hematocrit relative to wild-type (J:29900)

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 (J:29900)
• heterozygotes display hypocalciuria relative to wild-type

skeleton
N
• heterozygotes do not display any skeletal abnormalities (J:29900)

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