Phenotypes associated with this allele

• Allele Symbol: Mast4^em1Sjkm
• Allele Name: endonuclease-mediated mutation 1, Seong-Jin Kim
• Allele ID: MGI:7327411
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mast4^em1Sjkm/Mast4^em1Sjkm	C57BL/6J-Mast4^em1Sjkm	MGI:7716782

Genotype
MGI:7716782

hm1

• Allelic Composition: Mast4^em1Sjkm/Mast4^em1Sjkm
• Genetic Background: C57BL/6J-Mast4^em1Sjkm

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

reproductive system

increased testis apoptosis ( J:340701 )

♂ • mice show an increase in apoptotic cells in the outermost layer of the seminiferous tubules

abnormal testis morphology ( J:340701 )

♂ • testes have several seminiferous tubules with depleted germ cells or only Sertoli cells, the characteristic Sertoli cell-only syndrome phenotype

abnormal seminiferous tubule morphology ( J:340701 )

♂ • testes show enlarged seminiferous tubule lumen because of degenerated germ cells

♂ • marker analysis indicates disrupted development of seminiferous tubules (seen as Sertoli cell-only syndrome tubules) with increased expression of Sertoli cell markers in testes

♂ • however, several normal seminiferous tubules show active spermatogenesis and produce sperm

abnormal testis interstitial tissue morphology ( J:340701 )

♂ • testes show relatively wider interstitial space

small testis ( J:340701 )

♂

abnormal spermatogenesis ( J:340701 )

♂ • marker analysis indicates lower self-maintenance capacity of spermatogonial stem cells and blocked spermatogonial differentiation

oligozoospermia ( J:340701 )

♂ • total sperm number is dramatically decreased

abnormal spermatogonia proliferation ( J:340701 )

♂ • spermatogonia and proliferating cell marker expression is decreased in the testes

endocrine/exocrine glands

increased testis apoptosis ( J:340701 )

♂ • mice show an increase in apoptotic cells in the outermost layer of the seminiferous tubules

abnormal testis morphology ( J:340701 )

♂ • testes have several seminiferous tubules with depleted germ cells or only Sertoli cells, the characteristic Sertoli cell-only syndrome phenotype

abnormal seminiferous tubule morphology ( J:340701 )

♂ • testes show enlarged seminiferous tubule lumen because of degenerated germ cells

♂ • marker analysis indicates disrupted development of seminiferous tubules (seen as Sertoli cell-only syndrome tubules) with increased expression of Sertoli cell markers in testes

♂ • however, several normal seminiferous tubules show active spermatogenesis and produce sperm

abnormal testis interstitial tissue morphology ( J:340701 )

♂ • testes show relatively wider interstitial space

small testis ( J:340701 )

♂

cellular

oligozoospermia ( J:340701 )

♂ • total sperm number is dramatically decreased

increased testis apoptosis ( J:340701 )

♂ • mice show an increase in apoptotic cells in the outermost layer of the seminiferous tubules

abnormal spermatogonia proliferation ( J:340701 )

♂ • spermatogonia and proliferating cell marker expression is decreased in the testes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Sertoli cell-only syndrome		DOID:0050457		J:340701