Phenotypes Associated with This Genotype

Genotype
MGI:3838157

• Allelic Composition: Tg(COL1A1)73Prc/0
• Genetic Background: involves: FVB/N

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:31417 , J:146429 )

• one mouse died shortly after birth (J:31417)

• about 6% of mice die shortly after birth with extensive bone fractures (J:146429)

skeleton

abnormal tooth morphology ( J:146429 )

• on a powdered diet teeth grow abnormally thin and long

brittle teeth ( J:146429 )

• mice on a pelleted diet develop broken teeth

• on a powdered diet fewer broken teeth are seen

abnormal long bone morphology ( J:31417 , J:146429 )

• extensive fractures of the long bones were seen in the mouse that died shortly after birth (J:31417)

• long bone fractures are seen in about 33% of mice (J:146429)

decreased femur weight ( J:146429 )

short femur ( J:146429 )

rib fractures ( J:31417 , J:146429 )

• in the mouse that died shortly after birth (J:31417)

• seen in about 33% of mice (J:146429)

decreased bone mineral content ( J:146429 )

• decreased mineral content in the long bones

abnormal skeleton physiology ( J:146429 )

• decreased collagen content in the long bones

abnormal bone mineralization ( J:31417 )

• reduced mineralization of the skull in the mouse that died shortly after birth

fragile skeleton ( J:146429 )

• about 6% of mice die shortly after birth with extensive bone fractures

• about 33% of mice have detectable bone fractures on the day of birth

• in femurs the force to failure and energy to failure are decreased

craniofacial

abnormal tooth morphology ( J:146429 )

• on a powdered diet teeth grow abnormally thin and long

brittle teeth ( J:146429 )

• mice on a pelleted diet develop broken teeth

• on a powdered diet fewer broken teeth are seen

growth/size/body

abnormal tooth morphology ( J:146429 )

• on a powdered diet teeth grow abnormally thin and long

brittle teeth ( J:146429 )

• mice on a pelleted diet develop broken teeth

• on a powdered diet fewer broken teeth are seen

postnatal growth retardation ( J:146429 )

behavior/neurological

limp posture ( J:31417 )

• limbs were limp in the mouse that died shortly after birth

limbs/digits/tail

decreased femur weight ( J:146429 )

short femur ( J:146429 )

integument

thin skin ( J:146429 )

• thinner skin at birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteogenesis imperfecta type 1		DOID:0110334	OMIM:166200	J:146429