Phenotypes associated with this allele

• Allele Symbol: Cbfb^tm2.1Spe
• Allele Name: targeted mutation 2.1, Nancy A Speck
• Allele ID: MGI:3721277
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cbfb^tm2.1Spe/Cbfb^tm2.1Spe	involves: 129S4/SvJae	MGI:3721308
ht2	Cbfb^tm1Spe/Cbfb^tm2.1Spe	involves: 129S4/SvJae	MGI:3721372

Genotype
MGI:3721308

hm1

• Allelic Composition: Cbfb^tm2.1Spe/Cbfb^tm2.1Spe
• Genetic Background: involves: 129S4/SvJae

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

mortality/aging

neonatal lethality, complete penetrance ( J:124224 )

• die within the first day after birth although born at normal Mendelian ratios

skeleton

abnormal limb bone morphology ( J:124224 )

abnormal phalanx morphology ( J:124224 )

abnormal metacarpal bone morphology ( J:124224 )

abnormal metatarsal bone morphology ( J:124224 )

abnormal long bone diaphysis morphology ( J:124224 )

• reduced primary ossification and delayed appearance of secondary ossification centers

abnormal pectoral girdle bone morphology ( J:124224 )

abnormal clavicle morphology ( J:124224 )

abnormal scapula morphology ( J:124224 )

abnormal axial skeleton morphology ( J:124224 )

abnormal cranium morphology ( J:124224 )

abnormal neurocranium morphology ( J:124224 )

abnormal mandible morphology ( J:124224 )

abnormal maxilla morphology ( J:124224 )

abnormal sternum morphology ( J:124224 )

abnormal rib morphology ( J:124224 )

abnormal skeleton development ( J:124224 )

• delayed ossification of ribs, metacarpal/metatarsal bones, phalanges, pelvis, sternum, vertebrae

• hypoplastic clavicles, scapulae, calvaria, maxillae, mandibles

abnormal vertebrae development ( J:124224 )

hematopoietic system

abnormal thymus morphology ( J:124224 )

abnormal thymus cell ratio ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 10 fold

• increased levels of CD4 expressing cells

thymus hypoplasia ( J:124224 )

• small size

• reduced cellularity

abnormal T cell differentiation ( J:124224 )

• transition from early T-lineage to DN2 stage severely impaired

• DN2 to DN3 transition severely impaired

decreased double-positive T cell number ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 10 fold

increased CD4-positive, alpha-beta T cell number ( J:124224 )

• increased levels of CD4 expressing T cells but not typical CD4+ cells

abnormal splenic cell ratio ( J:124224 )

• 4-5 fold reduction in CD45⁺ numbers

• 10-20 fold reduction in monocyte/granulocytes

• CD19⁺ B cells and Ter119 erythrocyte numbers are reduced but proportionally normal

immune system

abnormal thymus morphology ( J:124224 )

abnormal thymus cell ratio ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 10 fold

• increased levels of CD4 expressing cells

thymus hypoplasia ( J:124224 )

• small size

• reduced cellularity

abnormal T cell differentiation ( J:124224 )

• transition from early T-lineage to DN2 stage severely impaired

• DN2 to DN3 transition severely impaired

decreased double-positive T cell number ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 10 fold

increased CD4-positive, alpha-beta T cell number ( J:124224 )

• increased levels of CD4 expressing T cells but not typical CD4+ cells

abnormal splenic cell ratio ( J:124224 )

• 4-5 fold reduction in CD45⁺ numbers

• 10-20 fold reduction in monocyte/granulocytes

• CD19⁺ B cells and Ter119 erythrocyte numbers are reduced but proportionally normal

craniofacial

abnormal cranium morphology ( J:124224 )

abnormal neurocranium morphology ( J:124224 )

abnormal mandible morphology ( J:124224 )

abnormal maxilla morphology ( J:124224 )

limbs/digits/tail

abnormal limb bone morphology ( J:124224 )

abnormal phalanx morphology ( J:124224 )

abnormal metacarpal bone morphology ( J:124224 )

abnormal metatarsal bone morphology ( J:124224 )

endocrine/exocrine glands

abnormal thymus morphology ( J:124224 )

abnormal thymus cell ratio ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 10 fold

• increased levels of CD4 expressing cells

thymus hypoplasia ( J:124224 )

• small size

• reduced cellularity

Genotype
MGI:3721372

ht2

• Allelic Composition: Cbfb^tm1Spe/Cbfb^tm2.1Spe
• Genetic Background: involves: 129S4/SvJae

mortality/aging

neonatal lethality, complete penetrance ( J:124224 )

• die within the first day after birth although born at normal Mendelian ratios

skeleton

abnormal limb bone morphology ( J:124224 )

abnormal phalanx morphology ( J:124224 )

abnormal metacarpal bone morphology ( J:124224 )

abnormal metatarsal bone morphology ( J:124224 )

abnormal long bone diaphysis morphology ( J:124224 )

• reduced primary ossification and delayed appearance of secondary ossification centers

• increased severity

abnormal pectoral girdle bone morphology ( J:124224 )

abnormal clavicle morphology ( J:124224 )

abnormal scapula morphology ( J:124224 )

abnormal axial skeleton morphology ( J:124224 )

abnormal cranium morphology ( J:124224 )

abnormal neurocranium morphology ( J:124224 )

abnormal mandible morphology ( J:124224 )

abnormal maxilla morphology ( J:124224 )

abnormal sternum morphology ( J:124224 )

abnormal rib morphology ( J:124224 )

abnormal skeleton development ( J:124224 )

• delayed ossification of ribs, metacarpal/metatarsal bones, phalanges, pelvis, sternum, vertebrae

• hypoplastic clavicles, scapulae, calvaria, maxillae, mandibles

• increased severity

abnormal vertebrae development ( J:124224 )

hematopoietic system

abnormal thymus morphology ( J:124224 )

abnormal thymus cell ratio ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 100 fold

• increased levels of CD4 expressing cells

thymus hypoplasia ( J:124224 )

• small size

• reduced cellularity

abnormal T cell differentiation ( J:124224 )

• transition from early T-lineage to DN2 stage severely impaired

• DN2 to DN3 transition severely impaired

decreased double-positive T cell number ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 100 fold

extramedullary hematopoiesis ( J:124224 )

• half the number of hematopoietic cells in the fetal liver at E12.5

• reversed at E17.5

abnormal megakaryocyte morphology ( J:124224 )

• colonies in culture are denser with smaller cells

thrombocytopenia ( J:124224 )

• reduced numbers of platelets both in culture and in the circulation

increased CD4-positive, alpha-beta T cell number ( J:124224 )

• increased levels of CD4 expressing T cells but not typical CD4+ cells

abnormal splenic cell ratio ( J:124224 )

• 4-5 fold reduction in CD45⁺ numbers

• 10-20 fold reduction in monocyte/granulocytes

• CD19⁺ B cells and Ter119 erythrocyte numbers are reduced but proportionally normal

immune system

abnormal thymus morphology ( J:124224 )

abnormal thymus cell ratio ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 100 fold

• increased levels of CD4 expressing cells

thymus hypoplasia ( J:124224 )

• small size

• reduced cellularity

abnormal T cell differentiation ( J:124224 )

• transition from early T-lineage to DN2 stage severely impaired

• DN2 to DN3 transition severely impaired

decreased double-positive T cell number ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 100 fold

increased CD4-positive, alpha-beta T cell number ( J:124224 )

• increased levels of CD4 expressing T cells but not typical CD4+ cells

abnormal splenic cell ratio ( J:124224 )

• 4-5 fold reduction in CD45⁺ numbers

• 10-20 fold reduction in monocyte/granulocytes

• CD19⁺ B cells and Ter119 erythrocyte numbers are reduced but proportionally normal

craniofacial

abnormal cranium morphology ( J:124224 )

abnormal neurocranium morphology ( J:124224 )

abnormal mandible morphology ( J:124224 )

abnormal maxilla morphology ( J:124224 )

limbs/digits/tail

abnormal limb bone morphology ( J:124224 )

abnormal phalanx morphology ( J:124224 )

abnormal metacarpal bone morphology ( J:124224 )

abnormal metatarsal bone morphology ( J:124224 )

endocrine/exocrine glands

abnormal thymus morphology ( J:124224 )

abnormal thymus cell ratio ( J:124224 )

• lower percentage of double positive T cells and absolute numbers reduced 100 fold

• increased levels of CD4 expressing cells

thymus hypoplasia ( J:124224 )

• small size

• reduced cellularity