Phenotypes Associated with This Genotype

Genotype
MGI:5883020

• Allelic Composition: Tg(PGK1-Gnas*R201C)60Pabi/0
• Genetic Background: either: (involves: 129S6/SvEvTac * C57BL/6) or (involves: 129S6/SvEvTac * FVB/N)

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

skeleton

abnormal skeleton morphology ( J:240241 )

• 50-80% of mice develop fibrous dysplasia that progresses from an initial stage in which excess primary bone formation occurs at endosteal surfaces and within medullary cavities, to an intermediate stage during which enhanced remodeling occurs, and a final stage during which marrow fibrosis and overall architectural subversion are established

• lesions in the tail vertebrae first appear at 3 months of age

• multiple lesions develop at other skeletal sites, resulting in a polyostotic pattern of skeletal disease

• however, mice exhibit normal bone development and embryonic bone cell differentiation

fragile skeleton ( J:240241 )

• spontaneous fractures of tail vertebrae in 7.3% of mice between 12 and 18 months

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
McCune Albright syndrome		DOID:1858	OMIM:174800	J:240241