Phenotypes Associated with This Genotype

Genotype
MGI:6376303

• Allelic Composition: Gna11^em1Mman/Gna11⁺
• 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 )

• slightly fewer (43%) than the expected (50%) of mice are seen at weaning

craniofacial

increased ear pigmentation ( J:280180 )

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

growth/size/body

increased ear pigmentation ( J:280180 )

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

hearing/vestibular/ear

increased ear pigmentation ( J:280180 )

• mice exhibit increased pigmentation of ears compared to 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

integument

increased ear pigmentation ( J:280180 )

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

increased tail pigmentation ( J:280180 )

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

limbs/digits/tail

increased tail pigmentation ( J:280180 )

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

pigmentation

increased ear pigmentation ( J:280180 )

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

increased tail pigmentation ( J:280180 )

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

skeleton

decreased bone mineral density ( J:280180 )

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

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

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