Phenotypes Associated with This Genotype

Genotype
MGI:3588582

• Allelic Composition: Gcm2^tm1Kry/Gcm2^tm1Kry
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:63291 )

• 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

absent parathyroid glands ( J:63291 )

decreased activity of parathyroid ( J:63291 )

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

homeostasis/metabolism

decreased circulating calcium level ( J:63291 , J:78067 )

• mice with severe hypocalcemia die shortly after birth, while the remaining mice exhibit mild hypocalcemia (J:63291)

decreased circulating phosphate level ( J:63291 )

increased urine calcium level ( J:63291 )

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

skeleton

abnormal trabecular bone morphology ( J:63291 )

• increased number and thickness of trabeculae

increased bone mass ( J:63291 )

abnormal bone ossification ( J:63291 )

• decreased osteoblast and osteoclast surface

renal/urinary system

increased urine calcium level ( J:63291 )

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

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypoparathyroidism		DOID:11199		J:63291