All Phenotypes Ezh2<tm2Sho> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Ezh2^tm2Sho/Ezh2^tm2Sho	involves: 129S1/Sv * 129S7/SvEvBrd	MGI:5308208
cn2	Ezh2^tm2Sho/Ezh2^tm2Sho Olig1^tm1(cre)Rth/0	involves: 129S1/Sv * 129S4/SvJae	MGI:6158438
cn3	Ezh2^tm2Sho/Ezh2⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ Kdm6b^tm1.1Rbo/Kdm6b^tm1.1Rbo	involves: 129S1/Sv * 129S4/SvJae * C57BL/6J * CBA/J	MGI:7338996
cn4	Ezh2^tm2Sho/Ezh2^tm2Sho Pgr^tm2(cre)Lyd/Pgr⁺	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:6827353
cn5	Ezh2^tm2Sho/Ezh2^tm2.1Sho Tg(Mx1-cre)1Cgn/0	involves: 129S1/Sv * C57BL/6 * CBA	MGI:5316003
cn6	Ezh2^tm2Sho/Ezh2^tm2Sho Tg(Mx1-cre)1Cgn/0	involves: 129S1/Sv * C57BL/6 * CBA	MGI:5316002

Allelic Composition	Ezh2^tm2Sho/Ezh2^tm2Sho
Genetic Background	involves: 129S1/Sv * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ezh2^tm2Sho mutation (1 available); any Ezh2 mutation (71 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:179371 )

cardiovascular system

abnormal myocardial trabeculae morphology ( J:179371 )

• hypertrabeculation

thin myocardium compact layer ( J:179371 )

muscle

abnormal myocardial trabeculae morphology ( J:179371 )

• hypertrabeculation

thin myocardium compact layer ( J:179371 )

Allelic Composition	Ezh2^tm2Sho/Ezh2^tm2Sho Olig1^tm1(cre)Rth/0
Genetic Background	involves: 129S1/Sv * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ezh2^tm2Sho mutation (1 available); any Ezh2 mutation (71 available)
Olig1^tm1(cre)Rth mutation (1 available); any Olig1 mutation (13 available)

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

nervous system

abnormal oligodendrocyte morphology ( J:256017 )

• lower percentage of CC1+ differentiating oligodendrocytes amongst Olig2+ oligodendrocytes in brain at age P7

• lower number of Mbp+ mature oligodendrocytes in brain at age P7

dysmyelination ( J:256017 )

• reduced myelination of axons in optic nerves at age P15

• thinner myelin sheaths around axons in optic nerves at age P15

Allelic Composition	Ezh2^tm2Sho/Ezh2⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ Kdm6b^tm1.1Rbo/Kdm6b^tm1.1Rbo
Genetic Background	involves: 129S1/Sv * 129S4/SvJae * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ezh2^tm2Sho mutation (1 available); any Ezh2 mutation (71 available)
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)
Kdm6b^tm1.1Rbo mutation (1 available); any Kdm6b mutation (65 available)

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

craniofacial

craniofacial phenotype ( J:323190 )

N	• development of the palatine processes of the maxilla and palatine bones and proliferation and differentiation of palatal mesenchymal cells are restored by conditional deletion of one copy of Ezh2 compared to mutant mice with wild-type Ezh2

cleft palate ( J:323190 )

• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency

digestive/alimentary system

cleft palate ( J:323190 )

• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency

growth/size/body

cleft palate ( J:323190 )

• conditional deletion of one copy of Ezh2 rescues cleft palate with 70% efficiency

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

reproductive system

decreased uterine NK cell number ( J:290765 )

• number of uterine natural killer cells is reduced in E8.5 decidual basalis

abnormal endometrium morphology ( J:290765 )

• at 8 months of age, the endometrium shows pathological changes resembling human endometrial hyperplasia

• however, the myometrial layers remain intact

abnormal endometrial gland morphology ( J:290765 )

• at 8 months of age, cystic dilation of endometrial glands containing eosin-stained substance is observed

• endometrial glands are variable in size and some contain stratified epithelial layers with nuclear atypia in some cases

• FOXA2 expression is reduced or partially lost in some glands at 2 months of age

increased endometrial gland number ( J:290765 )

• a slight level of endometrial gland crowding is noted in discrete regions, with intervening uterine stroma among glands shown to be sparse

endometrium hyperplasia ( J:290765 )

• at 5 to 8 months of age, endometrial hyperplasia is observed in nulliparous female mice

• Ki-67 staining is increased in some abnormal endometrial glands or cystic glandular structures

enlarged uterine horn ( J:290765 )

• weight of uterine horns is increased, even at 1 month of age (before sexual maturity)

abnormal uterine epithelium development ( J:290765 )

• at 1 and 2 months of age, uterus shows focal expression of basal cell markers KRT14 and TRP63 in a cell layer beneath luminal and/or glandular epithelial cells indicating focal formation of stratified uterine epithelium, unlike in wild-type uteri

• by 8 months of age, epithelial stratification is more extensive as shown by the presence of cells positively staining for KRT14, KRT5, KRT6A, and TRP63

• partial loss of FOXA2 expression is observed in the glandular epithelia at 2 months and no FOXA2 expression is detected in KRT14+ epithelial cells lining the luminal/glandular epithelia at 8 months

• basal-like epithelial cells (KRT14+ but KRT8-) lining some KRT8+ epithelial cells are detected at 8 months, and mRNA expression of basal cell markers is increased in uterine epithelia isolated at 1 month of age, indicating production of basal-like epithelial cells or a cell population expressing basal markers in the uterus

abnormal parturition ( J:290765 )

• females display parturition defects

dystocia ( J:290765 )

• ~64% of females show signs of dystocia or difficulty in labor

reduced female fertility ( J:290765 )

• females mated with fertile males for a period of 6 months yield a decreased number of litters and litter size relative to controls

• however, blastocysts can be retrieved from uteri at ~E3.5 and implantation sites can be found at E8.5

decreased litter size ( J:290765 )

• females mated with fertile males produce a smaller litter size than controls

embryo

decreased uterine NK cell number ( J:290765 )

• number of uterine natural killer cells is reduced in E8.5 decidual basalis

endocrine/exocrine glands

decreased uterine NK cell number ( J:290765 )

• number of uterine natural killer cells is reduced in E8.5 decidual basalis

abnormal endometrial gland morphology ( J:290765 )

• at 8 months of age, cystic dilation of endometrial glands containing eosin-stained substance is observed

• endometrial glands are variable in size and some contain stratified epithelial layers with nuclear atypia in some cases

• FOXA2 expression is reduced or partially lost in some glands at 2 months of age

increased endometrial gland number ( J:290765 )

• a slight level of endometrial gland crowding is noted in discrete regions, with intervening uterine stroma among glands shown to be sparse

hematopoietic system

decreased uterine NK cell number ( J:290765 )

• number of uterine natural killer cells is reduced in E8.5 decidual basalis

immune system

decreased uterine NK cell number ( J:290765 )

• number of uterine natural killer cells is reduced in E8.5 decidual basalis

Allelic Composition	Ezh2^tm2Sho/Ezh2^tm2.1Sho Tg(Mx1-cre)1Cgn/0
Genetic Background	involves: 129S1/Sv * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ezh2^tm2.1Sho mutation (0 available); any Ezh2 mutation (71 available)
Ezh2^tm2Sho mutation (1 available); any Ezh2 mutation (71 available)
Tg(Mx1-cre)1Cgn mutation (7 available)

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

neoplasm

increased leukemia incidence ( J:182211 )

• mice treated with pIpC to induce cre expression develop spontaneous T-cell leukemia (T-ALL), with a latency of development of 122-281 days following pIpC treatment

• leukemic cells infiltrate the bone marrow, spleen, liver, and kidney infiltrates comprise a mixture of mature lymphoid cells with open chromatin and cells with blastic appearance and prominent nucleoli

• leukemias are phenotypically heterogenous

immune system

decreased thymocyte number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes

enlarged spleen ( J:182211 )

• mice treated with pIpC to induce cre expression exhibit an enlarged spleen

increased double-negative T cell number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit an accumulation of immature CD4-CD8- cell population

decreased double-positive T cell number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a decrease in CD4+CD8+ cells

enlarged lymph nodes ( J:182211 )

• mice treated with pIpC to induce cre expression exhibit enlarged lymph nodes

hematopoietic system

decreased thymocyte number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes

enlarged spleen ( J:182211 )

• mice treated with pIpC to induce cre expression exhibit an enlarged spleen

increased double-negative T cell number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit an accumulation of immature CD4-CD8- cell population

decreased double-positive T cell number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a decrease in CD4+CD8+ cells

endocrine/exocrine glands

decreased thymocyte number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes

growth/size/body

enlarged spleen ( J:182211 )

• mice treated with pIpC to induce cre expression exhibit an enlarged spleen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute lymphoblastic leukemia		DOID:9952	OMIM:247640 OMIM:613065	J:182211

Allelic Composition	Ezh2^tm2Sho/Ezh2^tm2Sho Tg(Mx1-cre)1Cgn/0
Genetic Background	involves: 129S1/Sv * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ezh2^tm2Sho mutation (1 available); any Ezh2 mutation (71 available)
Tg(Mx1-cre)1Cgn mutation (7 available)

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

neoplasm

increased leukemia incidence ( J:182211 )

• mice treated with pIpC to induce cre expression develop spontaneous T-cell leukemia (T-ALL), with a latency of development of 122-281 days following pIpC treatment

• leukemias are phenotypically heterogenous

immune system

decreased thymocyte number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes

enlarged spleen ( J:182211 )

• mice treated with pIpC to induce cre expression exhibit an enlarged spleen

increased double-negative T cell number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit an accumulation of immature CD4-CD8- cell population

decreased double-positive T cell number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a decrease in CD4+CD8+ cells

enlarged lymph nodes ( J:182211 )

• mice treated with pIpC to induce cre expression exhibit enlarged lymph nodes

hematopoietic system

decreased thymocyte number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes

enlarged spleen ( J:182211 )

• mice treated with pIpC to induce cre expression exhibit an enlarged spleen

increased double-negative T cell number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit an accumulation of immature CD4-CD8- cell population

decreased double-positive T cell number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a decrease in CD4+CD8+ cells

endocrine/exocrine glands

decreased thymocyte number ( J:182211 )

• 7-8 week old mice treated with pIpC to induce cre expression exhibit a 7-10-fold decrease in the numbers of thymocytes

growth/size/body

enlarged spleen ( J:182211 )

• mice treated with pIpC to induce cre expression exhibit an enlarged spleen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
acute lymphoblastic leukemia		DOID:9952	OMIM:247640 OMIM:613065	J:182211

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