Phenotypes Associated with This Genotype

Genotype
MGI:5694079

• Allelic Composition: Pax8^tm1Pgr/Pax8^tm1Pgr
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

homeostasis/metabolism

increased thyroid-stimulating hormone level ( J:130062 )

• TSH levels are elevated 1900-fold

limbs/digits/tail

decreased bone mineral density of humerus ( J:130062 )

• relative and cumulative frequencies of micromineralization densities are reduced in proximal humerus

decreased femur compact bone thickness ( J:130062 )

• the ratio of femur length to cortical bone width is increased by 35%

short limbs ( J:130062 )

• limbs are 19% and 8% shorter at P14 and P70, respectively

• transient treatment with T3 and T4 before weaning (P8-P13) normalizes the skeletal phenotype

skeleton

decreased bone mineral density of humerus ( J:130062 )

• relative and cumulative frequencies of micromineralization densities are reduced in proximal humerus

decreased bone mineral density of femur ( J:130062 )

• femoral bone mineral density is reduced by 6%

decreased bone volume ( J:130062 )

• bone volume fraction is reduced by 17%

decreased compact bone thickness ( J:130062 )

• long bones have reduced cortical thickness and mid-diaphysis cortical bone thickness is reduced by 23%

• the ratio of the diameter between endosteal cortical bone surfaces to the diameter between periosteal surfaces is increased

decreased femur compact bone thickness ( J:130062 )

• the ratio of femur length to cortical bone width is increased by 35%

abnormal bone trabecula morphology ( J:130062 )

• long bones have abnormal trabecular architecture, with trabeculae being coarser, more plate-like and of increased connectivity

abnormal epiphyseal plate morphology ( J:130062 )

• wider growth plates due to widening of all zones

decreased bone mineralization ( J:130062 )

• mice exhibit reduced bone mineralization

delayed bone ossification ( J:130062 )

• mice exhibit delayed formation of secondary ossification centers

delayed endochondral bone ossification ( J:130062 )

• the proximal tibia epiphysis exhibits delayed and incomplete ossification and has disrupted growth plate architecture

abnormal bone remodeling ( J:130062 )

• bone retains calcified cartilage indicating impaired trabecular remodeling

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital hypothyroidism		DOID:0050328	OMIM:PS275200	J:130062