Phenotypes associated with this allele

• Allele Symbol: E2f6^tm1Lees
• Allele Name: targeted mutation 1, Jacqueline A Lees
• Allele ID: MGI:3790807
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	E2f6^tm1Lees/E2f6^tm1Lees	involves: 129S4/SvJae * C57BL/6	MGI:3790808
ht2	E2f6^tm1Lees/E2f6^+	involves: 129S4/SvJae * C57BL/6	MGI:3790809
cx3	Bmi1^tm1Brn/Bmi1^tm1Brn E2f6^tm1Lees/E2f6^+	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:3790813
cx4	Bmi1^tm1Brn/Bmi1^+ E2f6^tm1Lees/E2f6^tm1Lees	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:3790811
cx5	Bmi1^tm1Brn/Bmi1^tm1Brn E2f6^tm1Lees/E2f6^tm1Lees	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:3790810
cx6	Bmi1^tm1Brn/Bmi1^+ E2f6^tm1Lees/E2f6^+	involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6	MGI:3790812

Genotype
MGI:3790808

hm1

• Allelic Composition: E2f6^tm1Lees/E2f6^tm1Lees
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

skeleton

thoracic vertebral transformation ( J:134271 )

• transformation of T13 to L1 is seen in 50% of homozygous mice

cervical vertebral transformation ( J:134271 )

• transformation of C5 to C6 is seen in 10% of homozygous mice

lumbar vertebral transformation ( J:134271 )

• transformation of L6 to S1 is seen in 80% of homozygous mice

hematopoietic system

hematopoietic system phenotype ( J:134271 )

N • unlike mice homozygous for Bmi1^tm1Brn no abnormalities in the numbers or distribution of hematopoietic cells is detected

cellular

cellular phenotype ( J:134271 )

N • unlike mice homozygous for Bmi1^tm1Brn MEFs do not display any obvious defects in proliferation , senescence, or ability to re-enter the cell cycle

Genotype
MGI:3790809

ht2

• Allelic Composition: E2f6^tm1Lees/E2f6⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

skeleton

thoracic vertebral transformation ( J:134271 )

• transformation of T13 to L1 is seen in 10% of heterozygous mice

lumbar vertebral transformation ( J:134271 )

• transformation of L6 to S1 is seen in 24% of heterozygous mice

Genotype
MGI:3790813

cx3

• Allelic Composition: Bmi1^tm1Brn/Bmi1^tm1Brn; E2f6^tm1Lees/E2f6⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

skeleton

abnormal vertebrae morphology ( J:134271 )

• small extra bone present above C1 in 62% of compound mutant mice

thoracic vertebral transformation ( J:134271 )

• transformation of T7 to T8 and T13 to L1 are seen in 77% and 85% of compound mutant mice, respectively

cervical vertebral transformation ( J:134271 )

• transformation of C1 to C2, C5 to C6, and C7 to T1 are seen in 85%, 23%, and 31% of compound mutant mice, respectively

• partial transformation of C7 to T1 is seen in 77% of compound mutant mice

lumbar vertebral transformation ( J:134271 )

• transformation of L6 to S1 is seen in 92% of compound mutant mice

Genotype
MGI:3790811

cx4

• Allelic Composition: Bmi1^tm1Brn/Bmi1⁺; E2f6^tm1Lees/E2f6^tm1Lees
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

skeleton

thoracic vertebral transformation ( J:134271 )

• transformation of T13 to L1 is seen in 77% of compound mutant mice

cervical vertebral transformation ( J:134271 )

• partial or complete transformation of C7 to T1 is seen in 27% and 4% of compound mutant mice, respectively

lumbar vertebral transformation ( J:134271 )

• transformation of L6 to S1 is seen in 92% of compound mutant mice

Genotype
MGI:3790810

cx5

• Allelic Composition: Bmi1^tm1Brn/Bmi1^tm1Brn; E2f6^tm1Lees/E2f6^tm1Lees
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

mortality/aging

premature death ( J:134271 )

• lethality is seen between 3 and 20 weeks of age

postnatal lethality, incomplete penetrance ( J:134271 )

• only 38% of the expected number of mice are present at weaning

prenatal lethality, incomplete penetrance ( J:134271 )

• only 46% of the expected number of embryos are present at E18.5

growth/size/body

postnatal growth retardation ( J:134271 )

skeleton

abnormal vertebrae morphology ( J:134271 )

• small extra bone present above C1 in 38% of double homozygous mice

thoracic vertebral transformation ( J:134271 )

• transformation of T7 to T8 and T13 to L1 are seen in 62% and 100% of double homozygous mice, respectively

cervical vertebral transformation ( J:134271 )

• transformation of C1 to C2, C5 to C6, and C7 to T1 are seen in 92%, 23%, and 8% of double homozygous mice, respectively

• partial transformation of C7 to T1 is seen in 85% of double homozygous mice

lumbar vertebral transformation ( J:134271 )

• transformation of L6 to S1 is seen in 100% of double homozygous mice

hematopoietic system

anemia ( J:134271 )

• severe

abnormal bone marrow cell morphology/development ( J:134271 )

• shift in the distribution of myeloid to B lymphoid cells resulting in an increased percentage of myeloid cells

• within the B cell population, loss of immature B cells is greater than the loss of mature B cells

decreased bone marrow cell number ( J:134271 )

decreased hematopoietic cell number ( J:134271 )

• decreased number of hematopoietic cells in the thymus, bone marrow and spleen

decreased double-positive T cell number ( J:134271 )

cellular

abnormal cell cycle ( J:134271 )

• impaired ability of serum-starved MEFs to re-enter the cell cycle

decreased cell proliferation ( J:134271 )

• defect in asynchronous proliferation in MEFs

early cellular replicative senescence ( J:134271 )

• in MEFs

behavior/neurological

ataxia ( J:134271 )

• similar to that seen in mice homozygous for Bmi1^tm1Brn alone at 2 months of age

nervous system

cerebellum hypoplasia ( J:134271 )

• all three layers are affected

• hypoplasia is similar to that in mice homozygous for Bmi1^tm1Brn alone

immune system

decreased double-positive T cell number ( J:134271 )

Genotype
MGI:3790812

cx6

• Allelic Composition: Bmi1^tm1Brn/Bmi1⁺; E2f6^tm1Lees/E2f6⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

skeleton

thoracic vertebral transformation ( J:134271 )

• transformation of T7 to T8 and T13 to L1 are seen in 4% and 50% of double heterozygous mice, respectively

cervical vertebral transformation ( J:134271 )

• partial or complete transformation of C7 to T1 is seen in 42% and 8% of double heterozygous mice, respectively

• transformation of C5 to C6 is seen in 4% of double heterozygous mice

lumbar vertebral transformation ( J:134271 )

• transformation of L6 to S1 is seen in 73% of double heterozygous mice