Phenotypes associated with this allele

• Allele Symbol: Hsf2bp^em2Amp
• Allele Name: endonuclease-mediated mutation 2, Alberto M Pendas
• Allele ID: MGI:7281840
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hsf2bp^em2Amp/Hsf2bp^em2Amp	involves: C57BL/6J * CBA/J	MGI:7282037

Genotype
MGI:7282037

hm1

• Allelic Composition: Hsf2bp^em2Amp/Hsf2bp^em2Amp
• Genetic Background: involves: C57BL/6J * CBA/J

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

reproductive system

oligozoospermia ( J:303558 )

♂ • reduction in the number of spermatozoa in the epididymis

abnormal meiosis ( J:303558 )

• meiocytes show altered meiotic recombination

• however, no differences are seen in synapsis and desynapsis from leptotene to diplotene in both oocytes and spermatocytes

abnormal male meiosis ( J:303558 )

♂ • elevated number of apoptotic meiotic divisions in males

small testis ( J:303558 )

♂ • 21% reduction in testis size

arrest of spermatogenesis ( J:303558 )

♂ • seminiferous epithelium shows a stage IV arrest, characterized by massive apoptosis of zygotene-like spermatocytes occurring at the same time that spermatogonia divide into B spermatogonia

reduced female fertility ( J:303558 )

♀ • mild sub-fertility in females

♀ • however, females show no differences in the number of follicles and while males only show a slight reduction in fertility, it is not significant

decreased litter size ( J:303558 )

♀

endocrine/exocrine glands

small testis ( J:303558 )

♂ • 21% reduction in testis size

homeostasis/metabolism

abnormal DNA repair ( J:303558 )

• DNA repair defects in meiocytes, with reduced number of RAD51/DMC1 foci on double stranded breaks and the subsequent reduction in the number of crossovers

cellular

oligozoospermia ( J:303558 )

♂ • reduction in the number of spermatozoa in the epididymis

abnormal meiosis ( J:303558 )

• meiocytes show altered meiotic recombination

• however, no differences are seen in synapsis and desynapsis from leptotene to diplotene in both oocytes and spermatocytes

abnormal male meiosis ( J:303558 )

♂ • elevated number of apoptotic meiotic divisions in males

abnormal DNA repair ( J:303558 )

• DNA repair defects in meiocytes, with reduced number of RAD51/DMC1 foci on double stranded breaks and the subsequent reduction in the number of crossovers

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
primary ovarian insufficiency 19		DOID:0112278	OMIM:619245	J:303558