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Phenotypes Associated with This Genotype
Genotype
MGI:3588582
Allelic
Composition
Gcm2tm1Kry/Gcm2tm1Kry
Genetic
Background
involves: 129S7/SvEvBrd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gcm2tm1Kry mutation (0 available); any Gcm2 mutation (13 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 30% die shortly after birth due to severe hypocalcemia
• lethality of homozygous pups increases considerably when homozygous females are used in matings, indicating that the lethality is of maternal orgin, probably due to low extracellular calcium concentration in females and decreased milk production, as treatment with vitamin D to correct calcium levels, paritally rescues the lethality

endocrine/exocrine glands
• exibit biological hypoparathyroidism as parathyroid glands are absent, however parathyroid hormone serum levels are normal, indicating another source of this hormone

homeostasis/metabolism
• mice with severe hypocalcemia die shortly after birth, while the remaining mice exhibit mild hypocalcemia (J:63291)
• increased calcium elimination in the urine without evidence of renal failure

skeleton
• increased number and thickness of trabeculae
• decreased osteoblast and osteoclast surface

renal/urinary system
• increased calcium elimination in the urine without evidence of renal failure

Mouse Models of Human Disease
OMIM ID Ref(s)
Hypoparathyroidism, Familial Isolated; FIH 146200 J:63291


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
08/23/2016
MGI 6.05
The Jackson Laboratory