Mouse Genome Informatics
ht
    Gnastm1Gwa/Gnas+
involves: 129S/SvEv * 129S4/SvJae
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Subcutaneous ossifications in Gnastm1Gwa/Gnas+ mice

growth/size/body

integument
• 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
• 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
• 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
OMIM IDRef(s)
Pseudohypoparathyroidism, Type IA; PHP1A 103580 J:174525
Pseudopseudohypoparathyroidism; PPHP 612463 J:174525