Phenotypes associated with this allele

• Allele Symbol: Ezh2^tm2.1Sho
• Allele Name: targeted mutation 2.1 Stuart Orkin
• Allele ID: MGI:3823218
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ezh2^tm2.1Sho/Ezh2^tm2.1Sho	involves: 129S1/Sv * CD-1	MGI:3823223
cn2	Ezh2^tm2Sho/Ezh2^tm2.1Sho Tg(Mx1-cre)1Cgn/0	involves: 129S1/Sv * C57BL/6 * CBA	MGI:5316003

Genotype
MGI:3823223

hm1

• Allelic Composition: Ezh2^tm2.1Sho/Ezh2^tm2.1Sho
• Genetic Background: involves: 129S1/Sv * CD-1

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

mortality/aging

embryonic lethality between somite formation and embryo turning, complete penetrance ( J:142193 )

• mice die at E8.5

embryo

embryonic growth retardation ( J:142193 )

• mice are deformed and underdeveloped at E8.5

growth/size/body

embryonic growth retardation ( J:142193 )

• mice are deformed and underdeveloped at E8.5

Genotype
MGI:5316003

cn2

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

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