Phenotypes Associated with This Genotype

Genotype
MGI:3842704

• Allelic Composition: Ebf1^tm1Rug/Ebf1^tm1Rug
• Genetic Background: involves: 129S2/SvPas * 129X1/SvJ * C57BL/6

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

mortality/aging

premature death ( J:147179 )

• some mice die between 3 and 5 weeks of age of unknown causes

skeleton

abnormal long bone epiphyseal plate morphology ( J:147179 )

• growth plates are smaller than in wild-type mice

• however, organization of growth plates is normal

abnormal bone structure ( J:147179 )

• the number of adipocytes in the medullary canal and marrow space in the secondary center of ossification is increased compared to in wild-type mice

increased osteoclast cell number ( J:147179 )

• 2.5 times at 12 weeks

abnormal bone marrow morphology ( J:147179 )

• at 4 and 12 weeks, bone marrow fat is increased compared to in wild-type mice

increased osteoblast cell number ( J:147179 )

• at 4 weeks, osteoblast numbers are increased 85% compared to in wild-type mice

• at 4 weeks, osteoblast on bone surface is increased 88% compared to in wild-type mice

• at 12 weeks, osteoblast numbers are 90% above wild-type levels

abnormal trabecular bone morphology ( J:147179 )

• tabecular spacing is reduced 50% compared to in wild-type mice

• the trabecular number is increased more than 66% compared to in wild-type mice

increased trabecular bone thickness ( J:147179 )

abnormal bone ossification ( J:147179 )

• at 4 and 12 weeks, osteoid volume is increased 200% compared to in wild-type mice

• at 4 and 12 weeks, osteoid thickness is increased 22% and 25%, respectively, compared to in wild-type mice

• at 12 weeks, bone volume is 75% greater than in wild-type mice

• at 4 weeks, the polar moment of inertia is reduced 72% compared to in wild-type mice

• however, bone volume is normal at 4 weeks

• the bone formation rate is 285% of normal

decreased bone mineralization ( J:147179 )

• at 4 weeks, mice exhibit a significant lack of mineralized bone compared to in wild-type mice

delayed bone mineralization ( J:147179 )

• mineralization in the trabeculae is delayed compared to in wild-type mice

liver/biliary system

hepatic steatosis ( J:147179 )

immune system

increased osteoclast cell number ( J:147179 )

• 2.5 times at 12 weeks

adipose tissue

decreased subcutaneous adipose tissue amount ( J:147179 )

• at 4 and 12 weeks

growth/size/body

decreased body size ( J:147179 )

• runting is more exaggerated at 1 months compared to 6 months of age

hematopoietic system

decreased bone marrow cell number ( J:147179 )

• at 4 weeks, the number of bone marrow cells is decreased 50% compared to wild-type mice

• however, mice exhibit normal numbers of bone marrow cells at 12 weeks of age

increased osteoclast cell number ( J:147179 )

• 2.5 times at 12 weeks

integument

decreased subcutaneous adipose tissue amount ( J:147179 )

• at 4 and 12 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
lipodystrophy		DOID:811		J:147179