Phenotypes Associated with This Genotype

Genotype
MGI:5285183

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

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

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)
pseudohypoparathyroidism type 1A		DOID:0080053	OMIM:103580	J:174525
pseudopseudohypoparathyroidism		DOID:4183	OMIM:612463	J:174525