Phenotypes associated with this allele

• Allele Symbol: Gna11⁺
• Allele Name: wild type
• Allele ID: MGI:2430734
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gna11^Mhdadsk7/Gna11^+	C3HeB/FeJ-Gna11^Mhdadsk7/Ieg	MGI:2682214
ht2	Gna11^em1Mman/Gna11^+	C57BL/6NCrl-Gna11^em1Mman	MGI:6376303
cn3	Gna11^tm1Soff/Gna11^+ Gnaq^tm2Soff/Gnaq^tm2Soff Tg(PTH-cre)4167Slib/0	involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6	MGI:3796552
cx4	Gna11^tm1Soff/Gna11^+ Gnaq^tm1Soff/Gnaq^tm1Soff	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6	MGI:3037556
cx5	Gna11^tm1Soff/Gna11^+ Gnaq^tm1Soff/Gnaq^+	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6	MGI:3037554

Genotype
MGI:2682214

ht1

• Allelic Composition: Gna11^Mhdadsk7/Gna11⁺
• Genetic Background: C3HeB/FeJ-Gna11^Mhdadsk7/Ieg

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

pigmentation

darkened coat color ( J:81301 )

• slight darkening of the hair

• more severe in homozygous than heterozygous animals

hyperpigmentation ( J:81301 )

• excess pigmentation is also seen in the dermis of hair-bearing skin

• excess pigmentation is first seen at P3 increases through weaning then fades slightly with age

increased ear pigmentation ( J:81301 )

• extremely dark pigmentation in dermis of the ears

• more severe in homozygous than heterozygous animals

increased foot pad pigmentation ( J:81301 )

• excess pigment in a uniform and slanted stripe prominent over the volar pad at the base of the first digit; bluish-gray in color

• more severe in homozygous than heterozygous animals

increased tail pigmentation ( J:81301 )

• extremely dark pigmentation in dermis of the tail

• more severe in homozygous than heterozygous animals

hearing/vestibular/ear

increased ear pigmentation ( J:81301 )

• extremely dark pigmentation in dermis of the ears

• more severe in homozygous than heterozygous animals

limbs/digits/tail

increased foot pad pigmentation ( J:81301 )

• excess pigment in a uniform and slanted stripe prominent over the volar pad at the base of the first digit; bluish-gray in color

• more severe in homozygous than heterozygous animals

increased tail pigmentation ( J:81301 )

• extremely dark pigmentation in dermis of the tail

• more severe in homozygous than heterozygous animals

craniofacial

increased ear pigmentation ( J:81301 )

• extremely dark pigmentation in dermis of the ears

• more severe in homozygous than heterozygous animals

integument

increased ear pigmentation ( J:81301 )

• extremely dark pigmentation in dermis of the ears

• more severe in homozygous than heterozygous animals

darkened coat color ( J:81301 )

• slight darkening of the hair

• more severe in homozygous than heterozygous animals

increased foot pad pigmentation ( J:81301 )

• excess pigment in a uniform and slanted stripe prominent over the volar pad at the base of the first digit; bluish-gray in color

• more severe in homozygous than heterozygous animals

increased tail pigmentation ( J:81301 )

• extremely dark pigmentation in dermis of the tail

• more severe in homozygous than heterozygous animals

growth/size/body

increased ear pigmentation ( J:81301 )

• extremely dark pigmentation in dermis of the ears

• more severe in homozygous than heterozygous animals

Genotype
MGI:6376303

ht2

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

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

Genotype
MGI:3796552

cn3

• Allelic Composition: Gna11^tm1Soff/Gna11⁺; Gnaq^tm2Soff/Gnaq^tm2Soff; Tg(PTH-cre)4167Slib/0
• Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

growth/size/body

decreased body weight ( J:116986 )

• reduced at P9 compared to controls

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:116986 )

• levels are increased compared to controls at P9

abnormal circulating calcium level ( J:116986 )

• increased relative to controls

abnormal urine calcium level ( J:116986 )

• increased relative to controls at P9

renal/urinary system

abnormal urine calcium level ( J:116986 )

• increased relative to controls at P9

Genotype
MGI:3037556

cx4

• Allelic Composition: Gna11^tm1Soff/Gna11⁺; Gnaq^tm1Soff/Gnaq^tm1Soff
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:49140 )

• animals die within 1-2 hours after birth

behavior/neurological

hyporesponsive to tactile stimuli ( J:49140 )

• poorly responsive to tactile stimuli

cardiovascular system

common ventricle ( J:49140 )

• high incidence of univentricular hearts

craniofacial

short mandible ( J:49140 )

incus hypoplasia ( J:49140 )

• poorly developed incus

malleus hypoplasia ( J:49140 )

• poorly developed malleus

stapes hypoplasia ( J:49140 )

• poorly developed stapes

growth/size/body

decreased body size ( J:49140 )

• animals appear runted at birth

hearing/vestibular/ear

incus hypoplasia ( J:49140 )

• poorly developed incus

malleus hypoplasia ( J:49140 )

• poorly developed malleus

stapes hypoplasia ( J:49140 )

• poorly developed stapes

abnormal tympanic ring morphology ( J:49140 )

• vestigial tympanic ring

respiratory system

abnormal breathing pattern ( J:49140 )

• arrhythmic breathing

decreased pulmonary respiratory rate ( J:49140 )

• animals breathed at approximately half the rate of controls

skeleton

short mandible ( J:49140 )

incus hypoplasia ( J:49140 )

• poorly developed incus

malleus hypoplasia ( J:49140 )

• poorly developed malleus

stapes hypoplasia ( J:49140 )

• poorly developed stapes

homeostasis/metabolism

hypoxia ( J:49140 )

• noted at birth

Genotype
MGI:3037554

cx5

• Allelic Composition: Gna11^tm1Soff/Gna11⁺; Gnaq^tm1Soff/Gnaq⁺
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:49140 )

• mice are viable and fertile