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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ebf1tm1Rug
targeted mutation 1, Rudolf Grosschedl
MGI:1928729
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ebf1tm1Rug/Ebf1tm1Rug involves: 129S2/SvPas MGI:2175838
hm2
Ebf1tm1Rug/Ebf1tm1Rug involves: 129S2/SvPas * 129X1/SvJ * C57BL/6 MGI:3842704
hm3
Ebf1tm1Rug/Ebf1tm1Rug involves: 129S2/SvPas * C57BL/6 MGI:3629636


Genotype
MGI:2175838
hm1
Allelic
Composition
Ebf1tm1Rug/Ebf1tm1Rug
Genetic
Background
involves: 129S2/SvPas
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
• 30% mortality before the age of 4 weeks

growth/size/body
• significantly smaller than normal size

immune system
• 50% decrease in the number of fraction B and C cells in bone marrow cells
• 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
• cells expressing B220 and IgM on the cell surface are completely absent in the blood and spleen
• absence of CD5+IgM+ and CD5-IgM+ B cells in the peritoneal cavity
• absence of serum IgM

hematopoietic system
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
• 50% decrease in the number of fraction B and C cells in bone marrow cells
• 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
• cells expressing B220 and IgM on the cell surface are completely absent in the blood and spleen
• absence of CD5+IgM+ and CD5-IgM+ B cells in the peritoneal cavity
• absence of serum IgM




Genotype
MGI:3842704
hm2
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




Genotype
MGI:3629636
hm3
Allelic
Composition
Ebf1tm1Rug/Ebf1tm1Rug
Genetic
Background
involves: 129S2/SvPas * 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
nervous system
• the majority of fibers in the posterior branch of the anterior commissure fail to cross the midline
• fiber bundles in the internal capsule passing through the striatum are larger with an irregular and disorganized distribution
• 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
• increased number of apoptotic cells at E18.5
• dramatically reduced in size by 20 days of age
• 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
• 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





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last database update
06/12/2024
MGI 6.13
The Jackson Laboratory