Phenotypes Associated with This Genotype

Genotype
MGI:2176761

• Allelic Composition: Casr^tm1Ces/Casr⁺
• Genetic Background: involves: 129X1/SvJ * Black Swiss

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:29900 )

N • parathyroid glands from heterozygous mutants are of normal size and structure and display normal cell morphology

growth/size/body

growth/size/body region phenotype ( J:29900 )

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

hematopoietic system

hematopoietic system phenotype ( J:29900 )

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

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:29900 )

• 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

increased circulating calcium level ( J:29900 )

• heterozygotes show a benign elevation in serum Ca2+, both in serum total calcium and serum ionized calcium levels

increased circulating magnesium level ( J:29900 )

• heterozygotes display an elevation in serum Mg2+ levels

decreased urine calcium level ( J:29900 )

• heterozygotes display hypocalciuria relative to wild-type

renal/urinary system

renal/urinary system phenotype ( J:29900 )

N • heterozygous kidneys appear histologically and anatomically normal relative to wild-type

decreased urine calcium level ( J:29900 )

• heterozygotes display hypocalciuria relative to wild-type

skeleton

skeleton phenotype ( J:29900 )

N • heterozygotes do not display any skeletal abnormalities

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial hypocalciuric hypercalcemia 1		DOID:0060700	OMIM:145980	J:29900