Phenotypes associated with this allele

• Allele Symbol: Bcl11b^tm1.2Leid
• Allele Name: targeted mutation 1.2, Mark Leid
• Allele ID: MGI:3839578
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bcl11b^tm1.2Leid/Bcl11b^tm1.2Leid	involves: C57BL/6 * SJL	MGI:3839580
hm2	Bcl11b^tm1.2Leid/Bcl11b^tm1.2Leid	involves: ICR	MGI:3839581

Genotype
MGI:3839580

hm1

• Allelic Composition: Bcl11b^tm1.2Leid/Bcl11b^tm1.2Leid
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

neonatal lethality, complete penetrance ( J:147182 )

• die within 6 to 8 hours of birth

behavior/neurological

abnormal suckling behavior ( J:147182 )

• do not feed after birth

immune system

thymus hypoplasia ( J:147182 )

• severe thymic hypocellularity

absent T cells ( J:147182 )

• absence of alpha beta T lymphocytes

vision/eye

eyelids open at birth ( J:147182 )

homeostasis/metabolism

impaired skin barrier function ( J:147182 )

• at E17.5, in an X-gal permeability assay the ventral surface and head stain strongly but the dorsal surface does not

• at E18.5, the only difference from controls is the presence of staining around the eyelids suggesting a delay in barrier establishment

• at E17.5 the rate water loss from the ventral surface is about 2 fold higher than in controls but there is no difference in water loss from the dorsal surface

• at E18.5 the rate water loss from the ventral surface continues to be higher than in controls

hematopoietic system

thymus hypoplasia ( J:147182 )

• severe thymic hypocellularity

absent T cells ( J:147182 )

• absence of alpha beta T lymphocytes

integument

impaired skin barrier function ( J:147182 )

• at E17.5, in an X-gal permeability assay the ventral surface and head stain strongly but the dorsal surface does not

• at E18.5, the only difference from controls is the presence of staining around the eyelids suggesting a delay in barrier establishment

• at E17.5 the rate water loss from the ventral surface is about 2 fold higher than in controls but there is no difference in water loss from the dorsal surface

• at E18.5 the rate water loss from the ventral surface continues to be higher than in controls

abnormal epidermal layer morphology ( J:147182 )

• extremely hypoplastic with decreased numbers of differentiating and cornified cell layers at E17.5 and E18.5

• decrease in the number of proliferating cells and in the expression of differentiation markers

abnormal epidermis stratum corneum morphology ( J:147182 )

• at E17.5 and E18.5 there is a profound loss of the normal basket weave appearance of the cornified layer

• at E17.5, the surface distribution of neutral lipids is uneven and the intercellular lamellar membranes are disorganized and highly variable in thickness

• corneodesmosomes are reduced in size and corneocytes are more loosely packed compared to controls

abnormal corneocyte morphology ( J:147182 )

• corneodesmosomes are reduced in size and corneocytes are more loosely packed compared to controls

abnormal epidermis stratum granulosum morphology ( J:147182 )

• lipid discs in granule cells are replaced by large vesicles

thin epidermis ( J:147182 )

• about half as thick as in controls

endocrine/exocrine glands

thymus hypoplasia ( J:147182 )

• severe thymic hypocellularity

Genotype
MGI:3839581

hm2

• Allelic Composition: Bcl11b^tm1.2Leid/Bcl11b^tm1.2Leid
• Genetic Background: involves: ICR

Defects in tooth development in Bcl11b^tm1.2Leid/Bcl11b^tm1.2Leid mice

craniofacial

abnormal incisor morphology ( J:146765 )

• incisors are slightly smaller than in controls at all stages examined

• at E14.5 incisor buds are smaller with an elongated dental cord and this defect persists at E16.5

• at E16.5 cells resembling ameloblasts are found on both the labial and lingual sides of incisors unlike in controls where these cells are confined to the labial side

• at E16.5 an expansion of the epithelium is seen on the lingual side and the stellate reticulum on the labial side is indiscernible

• at E16.5 the outer enamel epithelium is hypoplastic and the odontoblasts appear disorganized

small incisors ( J:146765 )

• incisors are slightly smaller than in controls at all stages examined

small molars ( J:146765 )

• molars are slightly smaller than in controls at all stages examined

• at E14.5 molar buds are smaller with a slightly elongated dental cord

• at E16.5 and E18.5 molars are smaller and underdeveloped with a poorly defined enamel knot and hypoplastic stellate reticulum

abnormal tooth development ( J:146765 )

• at E14.5 incisor and molar buds are smaller with an elongated dental cord and this defect persists at E16.5

abnormal odontoblast morphology ( J:146765 )

• at E16.5 odontoblasts appear disorganized but this effect is less severe than the disruption of cells of the ameloblast lineage

abnormal ameloblast morphology ( J:146765 )

• at E16.5 the ameloblasts appear disorganized and are not polarized unlike in controls

• at E16.5 cells resembling ameloblasts are found on both the labial and lingual sides of incisors unlike in controls where these cells are confined to the labial side, indicating loss of lingual/labial asymmetry of ameloblasts

abnormal ameloblast differentiation ( J:146765 )

• at E18.5 expression analysis indicates that ameloblast differentiation and structural integrity are impaired

abnormal stellate reticulum morphology ( J:146765 )

• at E16.5, the stellate reticulum on the labial side of incisors is indiscernible/reduced

• at E16.5 and E18.5, molars display a hypoplastic stellate reticulum

abnormal enamel knot morphology ( J:146765 )

• at E16.5 and E18.5, molars show a poorly defined enamel knot

abnormal outer dental epithelium morphology ( J:146765 )

• the outer enamel epithelium is hypoplastic

abnormal enamel cord morphology ( J:146765 )

• at E14.5 incisor buds are smaller with an elongated dental cord and this defect persists at E16.5

• at E14.5 molar buds are smaller with a slightly elongated dental cord

skeleton

abnormal incisor morphology ( J:146765 )

• incisors are slightly smaller than in controls at all stages examined

• at E14.5 incisor buds are smaller with an elongated dental cord and this defect persists at E16.5

• at E16.5 cells resembling ameloblasts are found on both the labial and lingual sides of incisors unlike in controls where these cells are confined to the labial side

• at E16.5 an expansion of the epithelium is seen on the lingual side and the stellate reticulum on the labial side is indiscernible

• at E16.5 the outer enamel epithelium is hypoplastic and the odontoblasts appear disorganized

small incisors ( J:146765 )

• incisors are slightly smaller than in controls at all stages examined

small molars ( J:146765 )

• molars are slightly smaller than in controls at all stages examined

• at E14.5 molar buds are smaller with a slightly elongated dental cord

• at E16.5 and E18.5 molars are smaller and underdeveloped with a poorly defined enamel knot and hypoplastic stellate reticulum

abnormal tooth development ( J:146765 )

• at E14.5 incisor and molar buds are smaller with an elongated dental cord and this defect persists at E16.5

abnormal odontoblast morphology ( J:146765 )

• at E16.5 odontoblasts appear disorganized but this effect is less severe than the disruption of cells of the ameloblast lineage

abnormal ameloblast morphology ( J:146765 )

• at E16.5 the ameloblasts appear disorganized and are not polarized unlike in controls

• at E16.5 cells resembling ameloblasts are found on both the labial and lingual sides of incisors unlike in controls where these cells are confined to the labial side, indicating loss of lingual/labial asymmetry of ameloblasts

abnormal ameloblast differentiation ( J:146765 )

• at E18.5 expression analysis indicates that ameloblast differentiation and structural integrity are impaired

abnormal stellate reticulum morphology ( J:146765 )

• at E16.5, the stellate reticulum on the labial side of incisors is indiscernible/reduced

• at E16.5 and E18.5, molars display a hypoplastic stellate reticulum

abnormal enamel knot morphology ( J:146765 )

• at E16.5 and E18.5, molars show a poorly defined enamel knot

abnormal outer dental epithelium morphology ( J:146765 )

• the outer enamel epithelium is hypoplastic

abnormal enamel cord morphology ( J:146765 )

• at E14.5 incisor buds are smaller with an elongated dental cord and this defect persists at E16.5

• at E14.5 molar buds are smaller with a slightly elongated dental cord

growth/size/body

abnormal incisor morphology ( J:146765 )

• incisors are slightly smaller than in controls at all stages examined

• at E14.5 incisor buds are smaller with an elongated dental cord and this defect persists at E16.5

• at E16.5 cells resembling ameloblasts are found on both the labial and lingual sides of incisors unlike in controls where these cells are confined to the labial side

• at E16.5 an expansion of the epithelium is seen on the lingual side and the stellate reticulum on the labial side is indiscernible

• at E16.5 the outer enamel epithelium is hypoplastic and the odontoblasts appear disorganized

small incisors ( J:146765 )

• incisors are slightly smaller than in controls at all stages examined

small molars ( J:146765 )

• molars are slightly smaller than in controls at all stages examined

• at E14.5 molar buds are smaller with a slightly elongated dental cord

• at E16.5 and E18.5 molars are smaller and underdeveloped with a poorly defined enamel knot and hypoplastic stellate reticulum

abnormal tooth development ( J:146765 )

• at E14.5 incisor and molar buds are smaller with an elongated dental cord and this defect persists at E16.5

abnormal odontoblast morphology ( J:146765 )

• at E16.5 odontoblasts appear disorganized but this effect is less severe than the disruption of cells of the ameloblast lineage

abnormal ameloblast morphology ( J:146765 )

• at E16.5 the ameloblasts appear disorganized and are not polarized unlike in controls

• at E16.5 cells resembling ameloblasts are found on both the labial and lingual sides of incisors unlike in controls where these cells are confined to the labial side, indicating loss of lingual/labial asymmetry of ameloblasts

abnormal ameloblast differentiation ( J:146765 )

• at E18.5 expression analysis indicates that ameloblast differentiation and structural integrity are impaired

abnormal stellate reticulum morphology ( J:146765 )

• at E16.5, the stellate reticulum on the labial side of incisors is indiscernible/reduced

• at E16.5 and E18.5, molars display a hypoplastic stellate reticulum

abnormal enamel knot morphology ( J:146765 )

• at E16.5 and E18.5, molars show a poorly defined enamel knot

abnormal outer dental epithelium morphology ( J:146765 )

• the outer enamel epithelium is hypoplastic

abnormal enamel cord morphology ( J:146765 )

• at E14.5 incisor buds are smaller with an elongated dental cord and this defect persists at E16.5

• at E14.5 molar buds are smaller with a slightly elongated dental cord