Phenotypes associated with this allele

• Allele Symbol: Cbfa2t2^em1Dare
• Allele Name: endonuclease-mediated mutation 1, Danny Reinberg
• Allele ID: MGI:5811012
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cbfa2t2^em1Dare/Cbfa2t2^em1Dare	C57BL/6-Cbfa2t2^em1Dare	MGI:5888729

Genotype
MGI:5888729

hm1

• Allelic Composition: Cbfa2t2^em1Dare/Cbfa2t2^em1Dare
• Genetic Background: C57BL/6-Cbfa2t2^em1Dare

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

reproductive system

decreased male germ cell number ( J:233954 )

♂ • at P0, male testes are almost completely devoid of gonocytes

abnormal primordial germ cell morphology ( J:233954 )

• mice display severe defects in primordial germ cell (PGC) maturation

• at E7.0-7.25, PGCs show a significant reduction in the % of SOX2-positive cells relative to wild-type PGCs

decreased primordial germ cell number ( J:233954 )

• at E11.5, embryos show >95% reduction in the number of PGCs relative to wild-type controls, as shown by alkaline phosphatase staining of the genital ridge

• a similar reduction of PGCs is already noted at E7.25-E8.75

asthenozoospermia ( J:233954 )

♂ • remaining sperm are largely immotile

absent ovarian follicles ( J:233954 )

♀ • adult ovaries show a total absence of follicles

ovary hypoplasia ( J:233954 )

♀ • adult females exhibit underdeveloped ovaries

small testis ( J:233954 )

♂ • adult testes are reduced to ~30% of wild-type controls

decreased testis weight ( J:233954 )

♂ • at 8 weeks of age

abnormal spermatogenesis ( J:233954 )

♂ • 41% of seminiferous tubules do not contain spermatogenic cells

oligozoospermia ( J:233954 )

♂ • total sperm number is reduced to less than 10% of wild-type controls

infertility ( J:233954 )

• both sexes are infertile

female infertility ( J:233954 )

♀ • crosses of female homozygotes with wild-type males failed to produce pups over 2 months

male infertility ( J:233954 )

♂ • crosses of male homozygotes with wild-type females failed to produce pups over 2 months

impaired binding of sperm to zona pellucida ( J:233954 )

• remaining sperm are unable to bind the zonae pellucidae of oocytes during in vitro fertilization

cellular

decreased male germ cell number ( J:233954 )

♂ • at P0, male testes are almost completely devoid of gonocytes

oligozoospermia ( J:233954 )

♂ • total sperm number is reduced to less than 10% of wild-type controls

abnormal primordial germ cell morphology ( J:233954 )

• mice display severe defects in primordial germ cell (PGC) maturation

• at E7.0-7.25, PGCs show a significant reduction in the % of SOX2-positive cells relative to wild-type PGCs

decreased primordial germ cell number ( J:233954 )

• at E11.5, embryos show >95% reduction in the number of PGCs relative to wild-type controls, as shown by alkaline phosphatase staining of the genital ridge

• a similar reduction of PGCs is already noted at E7.25-E8.75

asthenozoospermia ( J:233954 )

♂ • remaining sperm are largely immotile

abnormal epigenetic regulation of gene expression ( J:233954 )

• mice display severe defects in PGC maturation and epigenetic reprogramming

• at E8.0, PGCs exhibit a specific EHMT1 (euchromatic histone methyltransferase 1) derepression, resulting in increased H3K9me2 levels at E8.75

endocrine/exocrine glands

absent ovarian follicles ( J:233954 )

♀ • adult ovaries show a total absence of follicles

ovary hypoplasia ( J:233954 )

♀ • adult females exhibit underdeveloped ovaries

small testis ( J:233954 )

♂ • adult testes are reduced to ~30% of wild-type controls

decreased testis weight ( J:233954 )

♂ • at 8 weeks of age