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Phenotypes Associated with This Genotype
Genotype
MGI:3842704
Allelic
Composition
Ebf1tm1Rug/Ebf1tm1Rug
Genetic
Background
involves: 129S2/SvPas * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ebf1tm1Rug mutation (0 available); any Ebf1 mutation (73 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice die between 3 and 5 weeks of age of unknown causes

skeleton
• growth plates are smaller than in wild-type mice
• however, organization of growth plates is normal
• 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
• 2.5 times at 12 weeks
• at 4 and 12 weeks, bone marrow fat is increased compared to in wild-type mice
• 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
• 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
• 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
• at 4 weeks, mice exhibit a significant lack of mineralized bone compared to in wild-type mice
• mineralization in the trabeculae is delayed compared to in wild-type mice

liver/biliary system

immune system
• 2.5 times at 12 weeks

adipose tissue

growth/size/body
• runting is more exaggerated at 1 months compared to 6 months of age

hematopoietic system
• 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
• 2.5 times at 12 weeks

integument

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory