Phenotypes associated with this allele

• Allele Symbol: Casr⁺
• Allele Name: wild type
• Allele ID: MGI:2176760
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Casr^tm1b(KOMP)Mbp/Casr^+	C57BL/6N-Casr^tm1b(KOMP)Mbp/Tcp	MGI:6288372
ht2	Casr^Nuf/Casr^+	either: (involves: 102/El * 102/H * C3H/He) or (involves: 102/El * C3H/He * C3H/HeH)	MGI:3603348
ht3	Casr^tm1Ces/Casr^+	involves: 129X1/SvJ * Black Swiss	MGI:2176761
cn4	Casr^tm1Wch/Casr^+ Tg(PTH-cre)4167Slib/0	involves: 129S4/SvJae * C57BL/6 * FVB	MGI:5306890

Genotype
MGI:6288372

ht1

• Allelic Composition: Casr^{tm1b(KOMP)Mbp}/Casr⁺
• Genetic Background: C57BL/6N-Casr^{tm1b(KOMP)Mbp}/Tcp
• Cell Lines: DEPD00519_3_D05

Data Sources

IMPC Data for Casr

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

endocrine/exocrine glands

abnormal pancreas morphology ( J:211773 )

♂

IMPC - UCD

homeostasis/metabolism

increased circulating calcium level ( J:211773 )

♀

IMPC - UCD

increased circulating phosphate level ( J:211773 )

♂

IMPC - UCD

edema ( J:211773 )

IMPC - TCP

nervous system

small superior vagus ganglion ( J:211773 )

♀

IMPC - UCD

reproductive system

enlarged uterus ( J:211773 )

♀

IMPC - UCD

Genotype
MGI:3603348

ht2

• Allelic Composition: Casr^Nuf/Casr⁺
• Genetic Background: either: (involves: 102/El * 102/H * C3H/He) or (involves: 102/El * C3H/He * C3H/HeH)

Ectopic calcification and cataract formation in Casr^Nuf/Casr⁺ and Casr^Nuf/Casr^Nuf mice

vision/eye

cataract ( J:92612 )

• cataracts consisting of a group of small, opaque dots in the lens nucleus, these dots are smaller and less numerous than in homozygotes

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:92612 )

• reduced parathyroid hormone levels are seen; however, no abnormalities are seen in the parathyroid glands and serum and urinary magnesium levels are normal

decreased circulating calcium level ( J:92612 )

increased circulating phosphate level ( J:92612 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant hypocalcemia 1		DOID:0090107	OMIM:601198	J:92612

Genotype
MGI:2176761

ht3

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

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

Genotype
MGI:5306890

cn4

• Allelic Composition: Casr^tm1Wch/Casr⁺; Tg(PTH-cre)4167Slib/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB

skeleton

skeleton phenotype ( J:180651 )

N • mice exhibit normal trabecular bone connectivity density and trabeculae spacing

decreased bone mineral density ( J:180651 )

• mild by 6 months of age

decreased compact bone volume ( J:180651 )

decreased compact bone thickness ( J:180651 )

decreased bone trabecula number ( J:180651 )

decreased trabecular bone thickness ( J:180651 )

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:180651 )

increased circulating calcium level ( J:180651 )

increased urine calcium level ( J:180651 )

renal/urinary system

increased urine calcium level ( J:180651 )