Phenotypes Associated with This Genotype

Genotype
MGI:6376290

• Allelic Composition: Gna11^em1Mman/Gna11^em1Mman
• Genetic Background: C57BL/6NCrl-Gna11^em1Mman

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:280180 )

• fewer (17%) than the expected (25%) of mice are seen at weaning

craniofacial

increased ear pigmentation ( J:280180 )

• mice exhibit increased pigmentation of ears compared to heterozygotes and wild-type mice

growth/size/body

increased ear pigmentation ( J:280180 )

• mice exhibit increased pigmentation of ears compared to heterozygotes and wild-type mice

hearing/vestibular/ear

increased ear pigmentation ( J:280180 )

• mice exhibit increased pigmentation of ears compared to heterozygotes and wild-type mice

homeostasis/metabolism

decreased circulating parathyroid hormone level ( J:280180 )

• while serum parathyroid hormone levels are similar to wild-type mice, this level is inappropriately low given the degree of hypocalcemia

decreased circulating calcium level ( J:280180 )

• mice exhibit lower serum ionized calcium levels

• mice i.p. injected with a negative allosteric modulator of the calcium-sensing receptor, the calcilytic NPS 2143, show increased calcium and PTH concentration as in wild-type mice, however 24 hours after injection, ionized calcium levels are no longer elevated in mutant mice as they are in wild-type mice

• treatment of mice with the Galpha11/q inhibitor YM-254890 does not change blood ionized calcium concentration as it does in wild-type mice

• however, no differences in fasting spot urinary fractional excretion index of calcium or urinary calcium/creatinine ratio are seen

increased circulating phosphate level ( J:280180 )

• serum phosphate is increased

• serum phosphate levels are not increased after NPS 2143 injection as in wild-type mice

integument

increased ear pigmentation ( J:280180 )

• mice exhibit increased pigmentation of ears compared to heterozygotes and wild-type mice

increased tail pigmentation ( J:280180 )

• mice exhibit increased pigmentation of tails compared to heterozygotes and wild-type mice

limbs/digits/tail

increased tail pigmentation ( J:280180 )

• mice exhibit increased pigmentation of tails compared to heterozygotes and wild-type mice

pigmentation

increased ear pigmentation ( J:280180 )

• mice exhibit increased pigmentation of ears compared to heterozygotes and wild-type mice

increased tail pigmentation ( J:280180 )

• mice exhibit increased pigmentation of tails compared to heterozygotes and wild-type mice

skeleton

decreased bone mineral density ( J:280180 )

• bone mineral density and bone volume/total volume is lower in females at 12-13 weeks of age and in males at 20 weeks of age

• whole-body and hind limb bone mineral density is lower in 12 week old females by dual-energy X-ray absorptiometry

decreased compact bone thickness ( J:280180 )

♀ • cortical thickness is decreased in 12-13 week old females

decreased bone trabecula number ( J:280180 )

♀ • trabecular number is decreased in 12-13 week old females

increased bone trabecular spacing ( J:280180 )

♀ • trabecular spacing is increased in 12-13 week old females

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant hypocalcemia 2		DOID:0090108	OMIM:615361	J:280180