Phenotypes associated with this allele

• Allele Symbol: Gnas^tm1Gwa
• Allele Name: targeted mutation 1, Gary Wand
• Allele ID: MGI:2152744
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Gnas^tm1Gwa/Gnas^+	either: (involves: 129S4/SvJae * 129/Sv) or (involves: 129S4/SvJae * C57BL/6J) or (involves: 129S4/SvJae * CD-1)	MGI:3655857
ht2	Gnas^tm1Gwa/Gnas^+	involves: 129S/SvEv * 129S4/SvJae	MGI:5285183
ht3	Gnas^tm1Gwa/Gnas^+	involves: 129S4/SvJae * C57BL/6J	MGI:3655856

Genotype
MGI:3655857

ht1

• Allelic Composition: Gnas^tm1Gwa/Gnas⁺
• Genetic Background: either: (involves: 129S4/SvJae * 129/Sv) or (involves: 129S4/SvJae * C57BL/6J) or (involves: 129S4/SvJae * CD-1)

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

behavior/neurological

decreased alcohol consumption ( J:70175 )

• mutants have a lower intake of ethanol than wild-type mice when given 24 hour access to feeding tubes containing water or water with 3% ethanol or when ethanol content is increased to 6, 10 and 20% every three days; genetic background shows no effect on phenotype

Genotype
MGI:5285183

ht2

• Allelic Composition: Gnas^tm1Gwa/Gnas⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae

Subcutaneous ossifications in Gnas^tm1Gwa/Gnas⁺ mice

growth/size/body

obese ( J:174525 )

integument

abnormal hypodermis morphology ( J:174525 )

• mutants, regardless of whether the allele is maternally or paternally inherited, develop extensive and progressive subcutaneous ossifications

• females exhibit fewer ossifications at all times examined than males

skin lesions ( J:174525 )

• mutants, regardless of whether the allele is maternally or paternally inherited, develop extensive and progressive subcutaneous ossifications, with rare lesions in the dermis and subcutis at 3 months but very common at 12 months

• 12 month old mutants exhibit erythemateous and mildly erosive footpad lesions

• occasionally mice exhibit nodular subcutaneous ear lesions, always near the site of ear tags that are not seen in wild-type mice, indicating that areas of pressure and trauma develop ossifications

• at 12 months of age, lesions are more severe in males than females for both maternally and paternally inherited alleles

skeleton

ectopic bone ( J:174525 )

• heterotopic bone formation is seen in the skin and is often associated with a dense eosinophilic osteoid-like matrix in the dermis and perifollicular areas

• subcutaneous ossifications are mineralized and express osteoblast markers and appear to originate near the hair follicle

• males have more severe and widespread heterotopic bone in the subcutaneous tissue than female mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Albright's hereditary osteodystrophy		DOID:0080053	OMIM:103580	J:174525
pseudopseudohypoparathyroidism		DOID:4183	OMIM:612463	J:174525

Genotype
MGI:3655856

ht3

• Allelic Composition: Gnas^tm1Gwa/Gnas⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

behavior/neurological

impaired righting response ( J:70175 )

• mutants take twice as long to regain their righting reflex as wild-type in response to sedative effects of ethanol

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:70175 )

• adenylate cyclase activity stimulated by GTP or AlF in membranes of the nucleus accumbens is significantly reduced relative to wild-type membranes; AlF-stimulated adenylate cyclase activity is also reduced in the hypothalamus (-30%), cerebellum (-23%), hippocampus (-35%), frontal cortex (-22%) and brainstem (-21%)