Phenotypes associated with this allele

• Allele Symbol: Bcl11b^tm1Jpk
• Allele Name: targeted mutation 1, Japan Kominami
• Allele ID: MGI:2663971
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bcl11b^tm1Jpk/Bcl11b^tm1Jpk	involves: BALB/c * C57BL/6 * CBA	MGI:2663973
ht2	Bcl11b^m1Jpk/Bcl11b^tm1Jpk	involves: BALB/c * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj	MGI:5522772

Genotype
MGI:2663973

hm1

• Allelic Composition: Bcl11b^tm1Jpk/Bcl11b^tm1Jpk
• Genetic Background: involves: BALB/c * C57BL/6 * CBA

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

mortality/aging

neonatal lethality, complete penetrance ( J:83651 )

• die within the first day after birth

hematopoietic system

increased thymocyte apoptosis ( J:83651 )

• increased thymocyte apoptosis in neonates

abnormal thymus cortex morphology ( J:83651 )

• disorganization of the cortex

absent thymus corticomedullary boundary ( J:83651 )

• boundary between cortex and medulla is abolished

abnormal thymus medulla morphology ( J:83651 )

• disorganization of the medulla

thymus hypoplasia ( J:83651 )

• thymuses are much smaller and the number of thymocytes is about 10% that of heterozygotes

abnormal T cell morphology ( J:83651 )

• thymocytes are larger in size than controls

abnormal T cell differentiation ( J:83651 )

• transition of thymocytes from the CD25+CD44- stage to the Cd25-CD44- stage is impaired, indicating a block at CD4-CD8- double-negative stage of development

abnormal T cell receptor beta chain V(D)J recombination ( J:83651 )

• Vbeta to Dbeta rearrangement is impaired in thymocytes

increased double-negative T cell number ( J:83651 )

• increase in the proportion of CD25+CD44- DN3 cells

decreased double-positive T cell number ( J:83651 )

• reduced number of CD4+CD8+ T cells

increased CD8-positive, alpha-beta T cell number ( J:83651 )

• increase in the proportion of the subset of TCRbeta-CD8+ immature single positive cells

immune system

increased thymocyte apoptosis ( J:83651 )

• increased thymocyte apoptosis in neonates

abnormal thymus cortex morphology ( J:83651 )

• disorganization of the cortex

absent thymus corticomedullary boundary ( J:83651 )

• boundary between cortex and medulla is abolished

abnormal thymus medulla morphology ( J:83651 )

• disorganization of the medulla

thymus hypoplasia ( J:83651 )

• thymuses are much smaller and the number of thymocytes is about 10% that of heterozygotes

abnormal T cell morphology ( J:83651 )

• thymocytes are larger in size than controls

abnormal T cell differentiation ( J:83651 )

• transition of thymocytes from the CD25+CD44- stage to the Cd25-CD44- stage is impaired, indicating a block at CD4-CD8- double-negative stage of development

abnormal T cell receptor beta chain V(D)J recombination ( J:83651 )

• Vbeta to Dbeta rearrangement is impaired in thymocytes

increased double-negative T cell number ( J:83651 )

• increase in the proportion of CD25+CD44- DN3 cells

decreased double-positive T cell number ( J:83651 )

• reduced number of CD4+CD8+ T cells

increased CD8-positive, alpha-beta T cell number ( J:83651 )

• increase in the proportion of the subset of TCRbeta-CD8+ immature single positive cells

vision/eye

eyelids open at birth ( J:83651 )

behavior/neurological

absent gastric milk in neonates ( J:83651 )

• mutants have no, or minimal, milk in their stomachs

cellular

increased thymocyte apoptosis ( J:83651 )

• increased thymocyte apoptosis in neonates

endocrine/exocrine glands

increased thymocyte apoptosis ( J:83651 )

• increased thymocyte apoptosis in neonates

abnormal thymus cortex morphology ( J:83651 )

• disorganization of the cortex

absent thymus corticomedullary boundary ( J:83651 )

• boundary between cortex and medulla is abolished

abnormal thymus medulla morphology ( J:83651 )

• disorganization of the medulla

thymus hypoplasia ( J:83651 )

• thymuses are much smaller and the number of thymocytes is about 10% that of heterozygotes

Genotype
MGI:5522772

ht2

• Allelic Composition: Bcl11b^m1Jpk/Bcl11b^tm1Jpk
• Genetic Background: involves: BALB/c * C57BL/6 * C57BL/6NCrlj * CBA/JNCrlj

mortality/aging

lethality at weaning, complete penetrance ( J:199312 )

• due to difficulty taking food

• however, survival is improved by cutting incisors and providing small-sized food materials

craniofacial

short basicranium ( J:199312 )

• short anterior cranial base

abnormal incisor morphology ( J:199312 )

• lower calcium and phosphorus concentrations in incisor enamel and dentin

• lower iron deposition in the incisors enamel

long incisors ( J:199312 )

abnormal tooth development ( J:199312 )

• maxillary incisor hyperplasia

• shortening of the immature odondoblast region at P21

• reduced number of proliferating ameloblast and odontoblast cells in incisors without a change in apoptosis rates

• fewer label retaining cells (indicating stem cells) in incisors with normal distribution

• however, postnatal incisor formation occurs

abnormal ameloblast morphology ( J:199312 )

• reduced number of proliferating cells in incisors

short maxilla ( J:199312 )

midface hypoplasia ( J:199312 )

growth/size/body

abnormal incisor morphology ( J:199312 )

• lower calcium and phosphorus concentrations in incisor enamel and dentin

• lower iron deposition in the incisors enamel

long incisors ( J:199312 )

abnormal tooth development ( J:199312 )

• maxillary incisor hyperplasia

• shortening of the immature odondoblast region at P21

• reduced number of proliferating ameloblast and odontoblast cells in incisors without a change in apoptosis rates

• fewer label retaining cells (indicating stem cells) in incisors with normal distribution

• however, postnatal incisor formation occurs

abnormal ameloblast morphology ( J:199312 )

• reduced number of proliferating cells in incisors

midface hypoplasia ( J:199312 )

decreased birth body size ( J:199312 )

decreased birth weight ( J:199312 )

skeleton

short basicranium ( J:199312 )

• short anterior cranial base

abnormal incisor morphology ( J:199312 )

• lower calcium and phosphorus concentrations in incisor enamel and dentin

• lower iron deposition in the incisors enamel

long incisors ( J:199312 )

abnormal tooth development ( J:199312 )

• maxillary incisor hyperplasia

• shortening of the immature odondoblast region at P21

• reduced number of proliferating ameloblast and odontoblast cells in incisors without a change in apoptosis rates

• fewer label retaining cells (indicating stem cells) in incisors with normal distribution

• however, postnatal incisor formation occurs

abnormal ameloblast morphology ( J:199312 )

• reduced number of proliferating cells in incisors

short maxilla ( J:199312 )