Phenotypes associated with this allele

• Allele Symbol: Ebf1^tm1Rug
• Allele Name: targeted mutation 1, Rudolf Grosschedl
• Allele ID: MGI:1928729
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ebf1^tm1Rug/Ebf1^tm1Rug	involves: 129S2/SvPas	MGI:2175838
hm2	Ebf1^tm1Rug/Ebf1^tm1Rug	involves: 129S2/SvPas * 129X1/SvJ * C57BL/6	MGI:3842704
hm3	Ebf1^tm1Rug/Ebf1^tm1Rug	involves: 129S2/SvPas * C57BL/6	MGI:3629636

Genotype
MGI:2175838

hm1

• Allelic Composition: Ebf1^tm1Rug/Ebf1^tm1Rug
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

premature death ( J:52607 )

• 30% mortality before the age of 4 weeks

growth/size/body

decreased body size ( J:52607 )

• significantly smaller than normal size

immune system

abnormal B cell morphology ( J:52607 )

decreased pro-B cell number ( J:52607 )

• 50% decrease in the number of fraction B and C cells in bone marrow cells

arrested B cell differentiation ( J:52607 )

• cell development is arrested after commitment to the B cell lineage but before the pro-B stage

• cell surface expression of B220 and Cd43

• Pax5 is not expressed

absent mature B cells ( J:52607 )

• cells expressing B220 and IgM on the cell surface are completely absent in the blood and spleen

absent B-1 B cells ( J:52607 )

• absence of CD5+IgM+ and CD5-IgM+ B cells in the peritoneal cavity

decreased IgM level ( J:52607 )

• absence of serum IgM

hematopoietic system

hematopoietic system phenotype ( J:52607 )

N • thymic and peripheral T cells expressing CD4 and/or CD8 and myeloid cells expressing the surface markers Mac-1 and Gr-1 are present in normal numbers

abnormal B cell morphology ( J:52607 )

decreased pro-B cell number ( J:52607 )

• 50% decrease in the number of fraction B and C cells in bone marrow cells

arrested B cell differentiation ( J:52607 )

• cell development is arrested after commitment to the B cell lineage but before the pro-B stage

• cell surface expression of B220 and Cd43

• Pax5 is not expressed

absent mature B cells ( J:52607 )

• cells expressing B220 and IgM on the cell surface are completely absent in the blood and spleen

absent B-1 B cells ( J:52607 )

• absence of CD5+IgM+ and CD5-IgM+ B cells in the peritoneal cavity

decreased IgM level ( J:52607 )

• absence of serum IgM

Genotype
MGI:3842704

hm2

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

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

Genotype
MGI:3629636

hm3

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

nervous system

abnormal anterior commissure pars posterior morphology ( J:44591 )

• the majority of fibers in the posterior branch of the anterior commissure fail to cross the midline

abnormal brain internal capsule morphology ( J:44591 )

• fiber bundles in the internal capsule passing through the striatum are larger with an irregular and disorganized distribution

abnormal striatum morphology ( J:44591 )

• dramatically reduced in size by 20 days of age

• abnormal shape

• fiber bundles in the internal capsule passing through the striatum are larger with an irregular and disorganized distribution

• thalamocortical fibers enter the ventral part of the mantle rather than the dorsal part at E15.5 but do reach the cortex

• increased number of apoptotic cells in the lateral striatum at E18.5

abnormal ventral striatum morphology ( J:44591 )

• increased number of apoptotic cells at E18.5

decreased striatum size ( J:44591 )

• dramatically reduced in size by 20 days of age

abnormal metencephalon morphology ( J:65601 )

• migration of facial branchiomotor neurons in the rhombencephalon is abnormal at E12.5

• a dorsal migration of neurons is seen in r5 as well as in r6

abnormal lateral ganglionic eminence morphology ( J:44591 )

• delayed differentiation of cells arising in the subventricular zone of the lateral ganglionic eminence and migrating to the mantle

• increased number of apoptotic cells at E18.5