Phenotypes associated with this allele

• Allele Symbol: Upf2^tm1Btp
• Allele Name: targeted mutation 1, Bo Torben Porse
• Allele ID: MGI:3790198
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Upf2^tm1Btp/Upf2^tm1Btp En1^tm2(cre)Wrst/En1^+	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ	MGI:6718865
cn2	Upf2^tm1Btp/Upf2^tm1Btp Tg(Mx1-cre)1Cgn/0	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3797491
cn3	Tg(Lck-cre)548Jxm/? Upf2^tm1Btp/Upf2^tm1Btp	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3797492
cn4	Upf2^tm1Btp/Upf2^tm1Btp Lyz2^tm1(cre)Ifo/?	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:3797493
cn5	Upf2^tm1Btp/Upf2^tm1Btp Tg(Atoh1-cre)1Bfri/0	involves: 129P2/OlaHsd * C57BL/6 * CBA	MGI:6718866

Genotype
MGI:6718865

cn1

• Allelic Composition: Upf2^tm1Btp/Upf2^tm1Btp; En1^tm2(cre)Wrst/En1⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ

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

nervous system

increased neuron apoptosis ( J:306384 )

• increased apoptotic cells in the cerebellum in both the ventricular zone and the prospective white matter

increased neuronal precursor proliferation ( J:306384 )

• in the ventricular zone progenitors at E13.5

abnormal cerebellum external granule cell layer morphology ( J:306384 )

• missing at E13.5 and P0

decreased inferior colliculus size ( J:306384 )

• grossly hypoplastic being nearly absent

decreased superior colliculus size ( J:306384 )

• grossly hypoplastic being nearly absent

cerebellum hypoplasia ( J:306384 )

• grossly being nearly absent

loss of GABAergic neurons ( J:306384 )

• at E13.5 in the cerebellum

cellular

increased neuron apoptosis ( J:306384 )

• increased apoptotic cells in the cerebellum in both the ventricular zone and the prospective white matter

increased neuronal precursor proliferation ( J:306384 )

• in the ventricular zone progenitors at E13.5

Genotype
MGI:3797491

cn2

• Allelic Composition: Upf2^tm1Btp/Upf2^tm1Btp; Tg(Mx1-cre)1Cgn/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

mortality/aging

premature death ( J:134765 )

• induction of Cre by pI-pC administration leads to death within 10 days with a median survival time of 6 days after first injection of pI-pC

• lethally irradiated wild-type mice that receive mutant bone marrow die within 11 days of Cre induction in the bone marrow derived cells

hematopoietic system

decreased T cell proliferation ( J:134765 )

• there is a profound reduction in the ability of CD4 and CD8 T cells to proliferate in response to mitogenic stimuli 6 days after induction of Cre by pI-pC administration

anemia ( J:134765 )

• anemia results within 6 days after induction of Cre by pI-pC administration

abnormal bone marrow cell morphology/development ( J:134765 )

• there is almost a complete absence of nucleated cells in the bone marrow including stem and progenitor cells 6 days after induction of Cre by pI-pC administration

abnormal common lymphocyte progenitor cell morphology ( J:134765 )

• there is almost a complete absence of granulocytes in the bone marrow 6 days after induction of Cre by pI-pC administration

low mean erythrocyte cell number ( J:134765 )

• mean RBC counts are reduced by more than half 6 days after induction of Cre by pI-pC administration

decreased hematocrit ( J:134765 )

• percentage of hematocrit is reduced by more than half 6 days after induction of Cre by pI-pC administration

decreased hemoglobin content ( J:134765 )

• hemoglobulin content is reduced by more than half 6 days after induction of Cre by pI-pC administration

decreased granulocyte number ( J:134765 )

• there is almost a complete absence of granulocytes in the bone marrow 6 days after induction of Cre by pI-pC administration

abnormal B cell number ( J:134765 )

• there is almost a complete absence of B-cells in the bone marrow 6 days after induction of Cre by pI-pC administration

decreased hematopoietic stem cell number ( J:134765 )

• there is almost a complete absence of hematopoietic progenitors in the bone marrow 6 days after induction of Cre by pI-pC administration

immune system

decreased T cell proliferation ( J:134765 )

• there is a profound reduction in the ability of CD4 and CD8 T cells to proliferate in response to mitogenic stimuli 6 days after induction of Cre by pI-pC administration

decreased granulocyte number ( J:134765 )

• there is almost a complete absence of granulocytes in the bone marrow 6 days after induction of Cre by pI-pC administration

abnormal B cell number ( J:134765 )

• there is almost a complete absence of B-cells in the bone marrow 6 days after induction of Cre by pI-pC administration

cellular

decreased T cell proliferation ( J:134765 )

• there is a profound reduction in the ability of CD4 and CD8 T cells to proliferate in response to mitogenic stimuli 6 days after induction of Cre by pI-pC administration

Genotype
MGI:3797492

cn3

• Allelic Composition: Tg(Lck-cre)548Jxm/?; Upf2^tm1Btp/Upf2^tm1Btp
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

immune system

thymus hypoplasia ( J:134765 )

• significant reduction in size of the thymus with cellularity decreased almost 3-fold

• the percentage of apoptotic cells in the thymus is doubled

abnormal T cell receptor beta chain V(D)J recombination ( J:134765 )

• unproductive transcripts with premature stop codons is detectable in 29% of single positive T cells

decreased double-positive T cell number ( J:134765 )

• there is a 3-fold reduction in the number of double positive T cells found in the thymus

decreased CD4-positive, alpha-beta T cell number ( J:134765 )

• there is a 4- to 5-fold reduction in CD4 T cells found in the thymus

• the number of CD4 T cells found in the periphery is 30% that of wild-type

decreased CD8-positive, alpha-beta T cell number ( J:134765 )

• there is a 2-fold to 3-fold reduction in T cell numbers

• the number of CD8 T cells found in the periphery is 30% that of wild-type

hematopoietic system

thymus hypoplasia ( J:134765 )

• significant reduction in size of the thymus with cellularity decreased almost 3-fold

• the percentage of apoptotic cells in the thymus is doubled

abnormal T cell receptor beta chain V(D)J recombination ( J:134765 )

• unproductive transcripts with premature stop codons is detectable in 29% of single positive T cells

decreased double-positive T cell number ( J:134765 )

• there is a 3-fold reduction in the number of double positive T cells found in the thymus

decreased CD4-positive, alpha-beta T cell number ( J:134765 )

• there is a 4- to 5-fold reduction in CD4 T cells found in the thymus

• the number of CD4 T cells found in the periphery is 30% that of wild-type

decreased CD8-positive, alpha-beta T cell number ( J:134765 )

• there is a 2-fold to 3-fold reduction in T cell numbers

• the number of CD8 T cells found in the periphery is 30% that of wild-type

endocrine/exocrine glands

thymus hypoplasia ( J:134765 )

• significant reduction in size of the thymus with cellularity decreased almost 3-fold

• the percentage of apoptotic cells in the thymus is doubled

Genotype
MGI:3797493

cn4

• Allelic Composition: Upf2^tm1Btp/Upf2^tm1Btp; Lyz2^tm1(cre)Ifo/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

immune system

immune system phenotype ( J:134765 )

N • no abnormalities are observed in cells of the myeloid lineage

Genotype
MGI:6718866

cn5

• Allelic Composition: Upf2^tm1Btp/Upf2^tm1Btp; Tg(Atoh1-cre)1Bfri/0
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

nervous system

increased neuronal precursor proliferation ( J:306384 )

• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum

abnormal cerebellum external granule cell layer morphology ( J:306384 )

• no clear separation of the inner and outer external granule cell layer

decreased cerebellar granule cell number ( J:306384 )

• at P6 in the inner granule layer

abnormal cerebellum anterior lobe morphology ( J:306384 )

• reduced length with failure of Purkinje cells to form a monolayer

• however, the posterior lobes are normal

cellular

increased neuronal precursor proliferation ( J:306384 )

• reduced fraction of granule cell precursors exiting the cell cycle in the anterior lobes of the cerebellum