All Phenotypes Cbfb<tm1Itan> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(Lck-cre)1Cwi/0	involves: 129P2/OlaHsd	MGI:3761838
cn2	Cbfb^tm1Itan/Cbfb^tm1Itan Zbtb7b^tm2Litt/Zbtb7b⁺ Tg(Lck-cre)1Cwi/0	involves: 129P2/OlaHsd * C57BL/6	MGI:3821708
cn3	Cbfb^tm1Itan/Cbfb^tm1Itan Zbtb7b^tm2Litt/Zbtb7b^tm1.2Litt Tg(Lck-cre)1Cwi/0	involves: 129P2/OlaHsd * C57BL/6	MGI:3821709
cn4	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(KRT14-cre)1Amc/0	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:6455789
cn5	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(Cd4-cre)1Cwi/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2	MGI:4452099
cn6	Cbfb^tm1Itan/Cbfb^tm1Itan Rr94^tm3.1Litt/Rr94^tm3.1Litt Tg(Cd4-cre)1Cwi/0	involves: 129P2/OlaHsd * C57BL/6 * DBA/2 * FVB/N	MGI:4452098
cn7	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0	involves: 129P2/OlaHsd * CD-1	MGI:8248845
cn8	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(Col1a1-cre)1Kry/0	involves: 129P2/OlaHsd * FVB/N	MGI:8248843

Allelic Composition	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(Lck-cre)1Cwi/0
Genetic Background	involves: 129P2/OlaHsd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfb^tm1Itan mutation (1 available); any Cbfb mutation (37 available)
Tg(Lck-cre)1Cwi mutation (3 available)

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

immune system

decreased thymocyte number ( J:125953 )

abnormal CD4-positive T cell differentiation ( J:125953 )

• 2 fold decrease in total number

abnormal T-helper 1 cell differentiation ( J:125953 )

• slightly increased levels of the Th-2 cytokine IL-4 are produced when nave T cells are activated in vitro

• a small subset of T cells produce both IL-4 and IFN-gamma when nave T cells are cultured under Th1 polarizing conditions

abnormal CD8-positive, alpha-beta T cell differentiation ( J:125953 )

• very few CD8-positive T cells are found in the thymus

abnormal double-positive T cell morphology ( J:125953 )

• increase in DP T cell due to reduced ability of T cell precursors to mature past double positive stage

hematopoietic system

decreased thymocyte number ( J:125953 )

abnormal CD4-positive T cell differentiation ( J:125953 )

• 2 fold decrease in total number

abnormal T-helper 1 cell differentiation ( J:125953 )

• slightly increased levels of the Th-2 cytokine IL-4 are produced when nave T cells are activated in vitro

• a small subset of T cells produce both IL-4 and IFN-gamma when nave T cells are cultured under Th1 polarizing conditions

abnormal CD8-positive, alpha-beta T cell differentiation ( J:125953 )

• very few CD8-positive T cells are found in the thymus

abnormal double-positive T cell morphology ( J:125953 )

• increase in DP T cell due to reduced ability of T cell precursors to mature past double positive stage

endocrine/exocrine glands

decreased thymocyte number ( J:125953 )

Allelic Composition	Cbfb^tm1Itan/Cbfb^tm1Itan Zbtb7b^tm2Litt/Zbtb7b⁺ Tg(Lck-cre)1Cwi/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfb^tm1Itan mutation (1 available); any Cbfb mutation (37 available)
Tg(Lck-cre)1Cwi mutation (3 available)
Zbtb7b^tm2Litt mutation (2 available); any Zbtb7b mutation (26 available)

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

immune system

abnormal T cell differentiation ( J:141144 )

• the number of HSA^hiCD69⁺ and HSA^hi TCRbeta^hi positively selected thymocytes are approximately 20% of those in littermate control or Zbtb7b-deficient mice

decreased CD4-positive, alpha-beta T cell number ( J:141144 )

• absolute numbers of CD4⁺ single positive mature thymocytes are reduced by 5 to 10 fold compared to controls

• however, the percentage of CD4⁺ T cells in peripheral lymph nodes is only slightly reduced

hematopoietic system

abnormal T cell differentiation ( J:141144 )

• the number of HSA^hiCD69⁺ and HSA^hi TCRbeta^hi positively selected thymocytes are approximately 20% of those in littermate control or Zbtb7b-deficient mice

decreased CD4-positive, alpha-beta T cell number ( J:141144 )

• absolute numbers of CD4⁺ single positive mature thymocytes are reduced by 5 to 10 fold compared to controls

• however, the percentage of CD4⁺ T cells in peripheral lymph nodes is only slightly reduced

Allelic Composition	Cbfb^tm1Itan/Cbfb^tm1Itan Zbtb7b^tm2Litt/Zbtb7b^tm1.2Litt Tg(Lck-cre)1Cwi/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfb^tm1Itan mutation (1 available); any Cbfb mutation (37 available)
Tg(Lck-cre)1Cwi mutation (3 available)
Zbtb7b^tm1.2Litt mutation (1 available); any Zbtb7b mutation (26 available)
Zbtb7b^tm2Litt mutation (2 available); any Zbtb7b mutation (26 available)

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

hematopoietic system

abnormal T cell differentiation ( J:141144 )

• the number of HSA^hiCD69⁺ and HSA^hi TCRbeta^hi positively selected thymocytes are approximately 20% of those in littermate control or Zbtb7b-deficient mice

decreased CD4-positive, alpha-beta T cell number ( J:141144 )

• absolute numbers of CD4⁺ single positive mature thymocytes are reduced between 5-10 fold compared to controls

• however, the percentage of CD4⁺ T cells in peripheral lymph nodes is only slightly reduced

immune system

abnormal T cell differentiation ( J:141144 )

• the number of HSA^hiCD69⁺ and HSA^hi TCRbeta^hi positively selected thymocytes are approximately 20% of those in littermate control or Zbtb7b-deficient mice

decreased CD4-positive, alpha-beta T cell number ( J:141144 )

• absolute numbers of CD4⁺ single positive mature thymocytes are reduced between 5-10 fold compared to controls

• however, the percentage of CD4⁺ T cells in peripheral lymph nodes is only slightly reduced

Allelic Composition	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(KRT14-cre)1Amc/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfb^tm1Itan mutation (1 available); any Cbfb mutation (37 available)
Tg(KRT14-cre)1Amc mutation (2 available)

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

craniofacial

abnormal palate development ( J:277246 )

• at E15.0 in some mice contact between primary and secondary palates is seen but mesenchymal confluence is not yet present and in others contact is absent

• at E16.0, contact between primary and secondary palates is absent in all mice

• at E15.0 there is partial contact but no fusion of the epithelium at the boundary between the primary and secondary palates and proliferation is increased and apoptosis decreased in the epithelium

submucous cleft palate ( J:277246 )

• partial submucous cleft with retained epithelial remnants at the anterior-most region of the secondary palate at P0

anterior cleft palate ( J:277246 )

• anterior cleft between the primary and secondary palates at P0 and P50 with the secondary palate failing to make contact with the primary palate and the nasal septum

• anterior cleft is seen in all mice at P0 and increases in size by P50

• in culture treatment with TGFB3 beads or folic acid rescues palatal cleft in many explants

digestive/alimentary system

abnormal palate development ( J:277246 )

• at E15.0 in some mice contact between primary and secondary palates is seen but mesenchymal confluence is not yet present and in others contact is absent

• at E16.0, contact between primary and secondary palates is absent in all mice

submucous cleft palate ( J:277246 )

• partial submucous cleft with retained epithelial remnants at the anterior-most region of the secondary palate at P0

anterior cleft palate ( J:277246 )

• anterior cleft between the primary and secondary palates at P0 and P50 with the secondary palate failing to make contact with the primary palate and the nasal septum

• anterior cleft is seen in all mice at P0 and increases in size by P50

• in culture treatment with TGFB3 beads or folic acid rescues palatal cleft in many explants

growth/size/body

abnormal palate development ( J:277246 )

• at E15.0 in some mice contact between primary and secondary palates is seen but mesenchymal confluence is not yet present and in others contact is absent

• at E16.0, contact between primary and secondary palates is absent in all mice

submucous cleft palate ( J:277246 )

• partial submucous cleft with retained epithelial remnants at the anterior-most region of the secondary palate at P0

anterior cleft palate ( J:277246 )

• anterior cleft between the primary and secondary palates at P0 and P50 with the secondary palate failing to make contact with the primary palate and the nasal septum

• anterior cleft is seen in all mice at P0 and increases in size by P50

• in culture treatment with TGFB3 beads or folic acid rescues palatal cleft in many explants

Allelic Composition	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(Cd4-cre)1Cwi/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfb^tm1Itan mutation (1 available); any Cbfb mutation (37 available)
Tg(Cd4-cre)1Cwi mutation (12 available)

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

immune system

abnormal T cell differentiation ( J:125953 )

• slight reduction in number of mature T cells in the thymus

• Cbfbeta protein is detectable in T cells of the thymus but not the periphery

abnormal T-helper 1 cell differentiation ( J:125953 )

• significant levels of the Th-2 cytokine IL-4 are produced when nave T cells are activated in vitro

• some T cells produce both IL-4 and IFN-gamma when nave T cells are cultured under Th1 polarizing conditions

increased double-positive T cell number ( J:158962 )

• in the spleen

abnormal CD8-positive, alpha beta T cell morphology ( J:125953 , J:158962 )

• vast majority of CD8-positive T cells in the periphery also express CD4 (J:125953)

• CD8+ T cells exhibit a de-repression of CD4 expression unlike in wild-type mice (J:158962)

abnormal CD8-positive, alpha-beta T cell number ( J:125953 )

• reduced number of single positive CD8 T cells

decreased CD8-positive, alpha-beta T cell number ( J:158962 )

• in the thymus and spleen

increased immunoglobulin level ( J:125953 )

increased IgA level ( J:125953 )

• at least 10 fold higher levels in the serum

increased IgE level ( J:125953 )

• at least 10 fold higher levels in the serum

increased IgG1 level ( J:125953 )

• at least 10 fold higher levels of IgG1 in the serum

lung inflammation ( J:125953 )

• an asthma-like disease occurs with lymphocytes and eosinophils infiltrating the bronchioles, perivascular space, and the alveolar septae

hematopoietic system

abnormal T cell differentiation ( J:125953 )

• slight reduction in number of mature T cells in the thymus

• Cbfbeta protein is detectable in T cells of the thymus but not the periphery

abnormal T-helper 1 cell differentiation ( J:125953 )

• significant levels of the Th-2 cytokine IL-4 are produced when nave T cells are activated in vitro

• some T cells produce both IL-4 and IFN-gamma when nave T cells are cultured under Th1 polarizing conditions

increased double-positive T cell number ( J:158962 )

• in the spleen

abnormal CD8-positive, alpha beta T cell morphology ( J:125953 , J:158962 )

• vast majority of CD8-positive T cells in the periphery also express CD4 (J:125953)

• CD8+ T cells exhibit a de-repression of CD4 expression unlike in wild-type mice (J:158962)

abnormal CD8-positive, alpha-beta T cell number ( J:125953 )

• reduced number of single positive CD8 T cells

decreased CD8-positive, alpha-beta T cell number ( J:158962 )

• in the thymus and spleen

increased immunoglobulin level ( J:125953 )

increased IgA level ( J:125953 )

• at least 10 fold higher levels in the serum

increased IgE level ( J:125953 )

• at least 10 fold higher levels in the serum

increased IgG1 level ( J:125953 )

• at least 10 fold higher levels of IgG1 in the serum

respiratory system

lung inflammation ( J:125953 )

• an asthma-like disease occurs with lymphocytes and eosinophils infiltrating the bronchioles, perivascular space, and the alveolar septae

Allelic Composition	Cbfb^tm1Itan/Cbfb^tm1Itan Rr94^tm3.1Litt/Rr94^tm3.1Litt Tg(Cd4-cre)1Cwi/0
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * DBA/2 * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfb^tm1Itan mutation (1 available); any Cbfb mutation (37 available)
Rr94^tm3.1Litt mutation (0 available); any Rr94 mutation (0 available)
Tg(Cd4-cre)1Cwi mutation (12 available)

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

immune system

abnormal double-positive T cell morphology ( J:158962 )

• mice exhibit a population of CD4^lo8+ double positive T cells in the mature thymocyte compartment and the spleen unlike in wild-type mice

decreased double-positive T cell number ( J:158962 )

• in the thymus

increased double-positive T cell number ( J:158962 )

• in the spleen

abnormal T cell subpopulation ratio ( J:158962 )

• the ratio of CD4 single positive to CD8 single positive T cells is inverted compared to in wild-type mice

decreased CD4-positive, alpha-beta T cell number ( J:158962 )

• the percentage of CD4 single positive cell in the thymus and spleen is decreased compared to in wild-type mice

increased CD8-positive, alpha-beta T cell number ( J:158962 )

• the percentage of CD8 single positive cell in the thymus and spleen is increased compared to in wild-type mice

hematopoietic system

abnormal double-positive T cell morphology ( J:158962 )

• mice exhibit a population of CD4^lo8+ double positive T cells in the mature thymocyte compartment and the spleen unlike in wild-type mice

decreased double-positive T cell number ( J:158962 )

• in the thymus

increased double-positive T cell number ( J:158962 )

• in the spleen

abnormal T cell subpopulation ratio ( J:158962 )

• the ratio of CD4 single positive to CD8 single positive T cells is inverted compared to in wild-type mice

decreased CD4-positive, alpha-beta T cell number ( J:158962 )

• the percentage of CD4 single positive cell in the thymus and spleen is decreased compared to in wild-type mice

increased CD8-positive, alpha-beta T cell number ( J:158962 )

• the percentage of CD8 single positive cell in the thymus and spleen is increased compared to in wild-type mice

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

skeleton

abnormal cranium morphology ( J:211343 )

• the skull is undercalcified and shows patent fontanelles

abnormal hyoid bone morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

• the underdevelopment of the hyoid bone is still apparent in 6-day-old mice

abnormal tooth morphology ( J:211343 )

• severely affected teeth

absent incisors ( J:211343 )

• incisors are completely absent or severely underdeveloped in mice at 17 days and 10 weeks of age

abnormal molar morphology ( J:211343 )

• molars are underdeveloped in mice at 17 days and 10 weeks of age

abnormal tooth development ( J:211343 )

• incisors and molars are underdeveloped at 17 days and 10 weeks of age

supernumerary teeth ( J:211343 )

• 10-week-old mice exhibit supernumerary teeth-like phenotype

abnormal mandible morphology ( J:211343 )

• mandibula is severely underdeveloped in newborns due to decreased ossification

mandibular retrognathia ( J:211343 )

• mandibular retrognathism

• underdeveloped mandibles and mandibular retrognathism result in a large gap inside the oral cavity causing an anterior open bite

abnormal cricoid cartilage morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

abnormal thyroid cartilage morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

abnormal long bone morphology ( J:211343 )

• underdeveloped long bones, leading to severe deformities

clavicle hypoplasia ( J:211343 )

• hypoplasia/aplasia of clavicles

abnormal bone marrow cavity size ( J:211343 )

• shorter medullary cavity in 10-week-old mice

decreased bone mineral density ( J:211343 )

decreased bone mineral density of femur ( J:211343 )

decreased bone volume ( J:211343 )

decreased osteoblast cell number ( J:211343 )

• mice show a decrease in osteoblast numbers, however the number of osteoclasts is not affected

decreased bone trabecula number ( J:211343 )

• femurs show an almost complete lack of trabecular bone

abnormal skeleton development ( J:211343 )

• every bone, except vertebrae and sternum, in 6-day-old mice is severely underdeveloped

impaired osteoblast differentiation ( J:211343 )

• primary calvarial cells show a decreased number of osteoblasts after 14 days of culture, indicating inhibited osteoblastogenesis

abnormal long bone epiphyseal plate proliferative zone ( J:211343 )

• proliferative zone is decreased and disorganized

• reduction in proliferating chondrocytes in both the resting and proliferation zones

decreased width of hypertrophic chondrocyte zone ( J:211343 )

• lack of hypertrophic chondrocytes

• reduction in chondrocytes of the hypertrophic region of the growth plate

decreased long bone epiphyseal plate size ( J:211343 )

• growth plate is shorted

• newborns have decreased cartilage and underdeveloped growth zones

disorganized long bone epiphyseal plate ( J:211343 )

• columns of proliferating and hypertrophic chondrocytes are less organized

decreased bone mineralization ( J:211343 )

• mice exhibit decreased bone mineralization and skeletal deformities

• primary calvarial cells show a reduction in mineralization after 21 days of culture

decreased bone ossification ( J:211343 )

• femurs show decreased growth and reduced ossification in 3-week-old mice

• mandibula, hyoid bone, thyroid cartilage, and cricoid cartilage in newborns is underdeveloped due to decreased ossification

delayed bone ossification ( J:211343 )

• mice show delayed bone ossification, with newborns having decreased ossification and endochondral bone formation

delayed endochondral bone ossification ( J:211343 )

• tibias show impaired endochondral bone ossification

delayed intramembranous bone ossification ( J:211343 )

• tibias show impaired intramembranous bone ossification

cellular

impaired osteoblast differentiation ( J:211343 )

• primary calvarial cells show a decreased number of osteoblasts after 14 days of culture, indicating inhibited osteoblastogenesis

craniofacial

abnormal cranium morphology ( J:211343 )

• the skull is undercalcified and shows patent fontanelles

abnormal hyoid bone morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

• the underdevelopment of the hyoid bone is still apparent in 6-day-old mice

abnormal tooth morphology ( J:211343 )

• severely affected teeth

absent incisors ( J:211343 )

• incisors are completely absent or severely underdeveloped in mice at 17 days and 10 weeks of age

abnormal molar morphology ( J:211343 )

• molars are underdeveloped in mice at 17 days and 10 weeks of age

abnormal tooth development ( J:211343 )

• incisors and molars are underdeveloped at 17 days and 10 weeks of age

supernumerary teeth ( J:211343 )

• 10-week-old mice exhibit supernumerary teeth-like phenotype

abnormal mandible morphology ( J:211343 )

• mandibula is severely underdeveloped in newborns due to decreased ossification

mandibular retrognathia ( J:211343 )

• mandibular retrognathism

• underdeveloped mandibles and mandibular retrognathism result in a large gap inside the oral cavity causing an anterior open bite

growth/size/body

abnormal hyoid bone morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

• the underdevelopment of the hyoid bone is still apparent in 6-day-old mice

abnormal tooth morphology ( J:211343 )

• severely affected teeth

absent incisors ( J:211343 )

• incisors are completely absent or severely underdeveloped in mice at 17 days and 10 weeks of age

abnormal molar morphology ( J:211343 )

• molars are underdeveloped in mice at 17 days and 10 weeks of age

abnormal tooth development ( J:211343 )

• incisors and molars are underdeveloped at 17 days and 10 weeks of age

supernumerary teeth ( J:211343 )

• 10-week-old mice exhibit supernumerary teeth-like phenotype

abnormal mandible morphology ( J:211343 )

• mandibula is severely underdeveloped in newborns due to decreased ossification

mandibular retrognathia ( J:211343 )

• mandibular retrognathism

• underdeveloped mandibles and mandibular retrognathism result in a large gap inside the oral cavity causing an anterior open bite

decreased body height ( J:211343 )

• 3-week-old mice exhibit disproportionally short stature

limbs/digits/tail

short limbs ( J:211343 )

respiratory system

abnormal cricoid cartilage morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

abnormal thyroid cartilage morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleidocranial dysplasia		DOID:13994	OMIM:119600 OMIM:216330	J:211343

Allelic Composition	Cbfb^tm1Itan/Cbfb^tm1Itan Tg(Col1a1-cre)1Kry/0
Genetic Background	involves: 129P2/OlaHsd * FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cbfb^tm1Itan mutation (1 available); any Cbfb mutation (37 available)
Tg(Col1a1-cre)1Kry mutation (2 available)

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

growth/size/body

decreased body height ( J:211343 )

• shorter stature

skeleton

decreased bone mineral density ( J:211343 )

decreased bone volume ( J:211343 )

decreased osteoblast cell number ( J:211343 )

decreased bone mineralization ( J:211343 )

decreased bone ossification ( J:211343 )

• bone formation is severely inhibited, however, the clavicle, mandibles and teeth, and intramembranous bone formation are not dramatically affected and growth plate development is normal

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