Phenotypes associated with this allele

• Allele Symbol: Dmc1^Mei11
• Allele Name: spermatogonial depletion
• Allele ID: MGI:2177010
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dmc1^Mei11/Dmc1^Mei11	involves: 129S4/SvJae * C57BL/6J	MGI:2177047
ht2	Dmc1^Mei11/Dmc1^+	involves: 129S4/SvJae * C3HeB/FeJ * C57BL/6J	MGI:3768910
ht3	Dmc1^Mei11/Dmc1^+	involves: 129S4/SvJae * C57BL/6J	MGI:3768911
ht4	Dmc1^tm1Jcs/Dmc1^Mei11	involves: 129S4/SvJae * C57BL/6J	MGI:3768914

Genotype
MGI:2177047

hm1

• Allelic Composition: Dmc1^Mei11/Dmc1^Mei11
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

reproductive system

decreased male germ cell number ( J:60747 )

♂ • germ cells are absent in some sections of mutant seminiferous tubules

abnormal seminiferous tubule morphology ( J:60747 )

♂ • relatively normal seminiferous tubule segments are juxtaposed with agametic tubule segments

abnormal spermiogenesis ( J:60747 )

♂ • homozygotes display aberrant spermatid elongation

♂ • flagellar development in spermatids is abnormal

male infertility ( J:60747 )

♂ • male homozygotes fail to produce offspring

endocrine/exocrine glands

abnormal seminiferous tubule morphology ( J:60747 )

♂ • relatively normal seminiferous tubule segments are juxtaposed with agametic tubule segments

cellular

decreased male germ cell number ( J:60747 )

♂ • germ cells are absent in some sections of mutant seminiferous tubules

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sertoli cell-only syndrome		DOID:0050457		J:60747

Genotype
MGI:3768910

ht2

• Allelic Composition: Dmc1^Mei11/Dmc1⁺
• Genetic Background: involves: 129S4/SvJae * C3HeB/FeJ * C57BL/6J

Histopathology of Dmc1^Mei11/Dmc⁺ mouse testes

endocrine/exocrine glands

abnormal ovarian follicle morphology ( J:122037 )

♀ • ovaries of older females are nearly devoid of developing follicles

reproductive system

decreased oocyte number ( J:122037 )

♀ • females are fertile but have a reduced oocyte pool associated with chromosome synapsis defects

abnormal spermatocyte morphology ( J:122037 )

♂ • massive degeneration of spermatocytes due to meiotic prophase arrest

abnormal female meiosis ( J:122037 )

♀ • chromosome synapsis defects; significant proportion of oocytes have unrepaired breaks and asynapsed chromosomes at the time when most oocytes normally reach pachynema and diplonema

arrest of male meiosis ( J:122037 )

♂ • spermatogenesis is arrested in meiotic prophase (meiosis I arrest), with an absence of postmeiotic spermatids

♂ • defective chromosome synapsis and double strand break repair in spermatocytes; spermatocytes exhibit either a zygotene-like or aberrant pachytene-like morphology, containing a mixture of synapsed, partially synapsed and asynapsed chromosomes

abnormal ovarian follicle morphology ( J:122037 )

♀ • ovaries of older females are nearly devoid of developing follicles

reduced female fertility ( J:122037 )

♀ • a few females in extended matings exhibit a premature decline in fertility

male infertility ( J:122037 )

♂

cellular

decreased oocyte number ( J:122037 )

♀ • females are fertile but have a reduced oocyte pool associated with chromosome synapsis defects

abnormal spermatocyte morphology ( J:122037 )

♂ • massive degeneration of spermatocytes due to meiotic prophase arrest

abnormal female meiosis ( J:122037 )

♀ • chromosome synapsis defects; significant proportion of oocytes have unrepaired breaks and asynapsed chromosomes at the time when most oocytes normally reach pachynema and diplonema

arrest of male meiosis ( J:122037 )

♂ • spermatogenesis is arrested in meiotic prophase (meiosis I arrest), with an absence of postmeiotic spermatids

♂ • defective chromosome synapsis and double strand break repair in spermatocytes; spermatocytes exhibit either a zygotene-like or aberrant pachytene-like morphology, containing a mixture of synapsed, partially synapsed and asynapsed chromosomes

Genotype
MGI:3768911

ht3

• Allelic Composition: Dmc1^Mei11/Dmc1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

Histopathology of Dmc1^Mei11/Dmc⁺ mouse testes

endocrine/exocrine glands

abnormal ovarian follicle morphology ( J:122037 )

♀ • depletion of primordial and primary follicle pools in 6-week old females compared to wild-type

reproductive system

abnormal female meiosis ( J:122037 )

♀ • oocytes exhibit synaptic defects, core fragmentation and persistent double stranded breaks

arrest of male meiosis ( J:122037 )

♂ • Background Sensitivity: the vast majority of seminiferous tubules are arrested at epithelial stage IV, however observe rare seminiferous tubules containing mid-pachynema spermatocytes and postmeiotic round and elongating spermatids, indicating that severity is somewhat less on a C57BL/6J background than on a C3HeB/FeJ background

abnormal ovarian follicle morphology ( J:122037 )

♀ • depletion of primordial and primary follicle pools in 6-week old females compared to wild-type

male infertility ( J:122037 )

♂

cellular

abnormal female meiosis ( J:122037 )

♀ • oocytes exhibit synaptic defects, core fragmentation and persistent double stranded breaks

arrest of male meiosis ( J:122037 )

♂ • Background Sensitivity: the vast majority of seminiferous tubules are arrested at epithelial stage IV, however observe rare seminiferous tubules containing mid-pachynema spermatocytes and postmeiotic round and elongating spermatids, indicating that severity is somewhat less on a C57BL/6J background than on a C3HeB/FeJ background

Genotype
MGI:3768914

ht4

• Allelic Composition: Dmc1^tm1Jcs/Dmc1^Mei11
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

Ovary histopathology of the Dmc1^Mei11/Dmc⁺ and Dmc1^Mei11/Dmc1^tm1Jcs mice

endocrine/exocrine glands

abnormal ovarian follicle morphology ( J:122037 )

♀ • 60% of females exhibit a relatively normal ovarian morphology with developing and antral-stage follicles, although with fewer follicles than in wild-type

absent ovarian follicles ( J:122037 )

♀ • 40% of females exhibit residual ovaries devoid of follicles

reproductive system

decreased oocyte number ( J:122037 )

♀

abnormal spermatocyte morphology ( J:122037 )

♂ • spermatocytes exhibit either a zygotene-like or aberrant pachytene-like morphology, containing a mixture of synapsed, partially synapsed and asynapsed chromosomes

arrest of male meiosis ( J:122037 )

♂ • testes undergo complete prophase I meiotic arrest, without signs of postmeiotic differentiation as is seen in heterozygous Dmc1^Mei11 males

♂ • defective chromosome synapsis and double strand break repair in spermatocytes; spermatocytes exhibit either a zygotene-like or aberrant pachytene-like morphology, containing a mixture of synapsed, partially synapsed and asynapsed chromosomes

abnormal ovarian follicle morphology ( J:122037 )

♀ • 60% of females exhibit a relatively normal ovarian morphology with developing and antral-stage follicles, although with fewer follicles than in wild-type

absent ovarian follicles ( J:122037 )

♀ • 40% of females exhibit residual ovaries devoid of follicles

female infertility ( J:122037 )

♀

cellular

decreased oocyte number ( J:122037 )

♀

abnormal spermatocyte morphology ( J:122037 )

♂ • spermatocytes exhibit either a zygotene-like or aberrant pachytene-like morphology, containing a mixture of synapsed, partially synapsed and asynapsed chromosomes

arrest of male meiosis ( J:122037 )

♂ • testes undergo complete prophase I meiotic arrest, without signs of postmeiotic differentiation as is seen in heterozygous Dmc1^Mei11 males

♂ • defective chromosome synapsis and double strand break repair in spermatocytes; spermatocytes exhibit either a zygotene-like or aberrant pachytene-like morphology, containing a mixture of synapsed, partially synapsed and asynapsed chromosomes