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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Hsf2bpem1Amp
endonuclease-mediated mutation 1, Alberto M Pendas
MGI:7281837
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Hsf2bpem1Amp/Hsf2bpem1Amp involves: C57BL/6J * CBA/J MGI:7282042


Genotype
MGI:7282042
hm1
Allelic
Composition		 Hsf2bpem1Amp/Hsf2bpem1Amp
Genetic
Background		 involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hsf2bpem1Amp mutation (0 available); any Hsf2bp mutation (24 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
azoospermia ( J:303558 )
• absence of spermatozoa, with massive apoptosis of spermatocytes
abnormal spermatocyte morphology ( J:303558 )
• massive apoptosis of spermatocytes
abnormal chromosomal synapsis ( J:303558 )
• increase in numbers of oocytes showing synapsis defects
abnormal female meiosis ( J:303558 )
• oocytes show a delay in prophase I progression with the majority of cells at zygotene stage in 17.5 dpc females, while the wild-type oocytes are mainly at pachytene stage
abnormal ovarian follicle number ( J:303558 )
• drastic reduction of the follicle pool in ovaries
small testis ( J:303558 )
• 70% reduction in testes size
arrest of spermatogenesis ( J:303558 )
• complete spermatogenic arrest at epithelial stage IV and absence of spermatozoa

endocrine/exocrine glands
abnormal ovarian follicle number ( J:303558 )
• drastic reduction of the follicle pool in ovaries
small testis ( J:303558 )
• 70% reduction in testes 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
azoospermia ( J:303558 )
• absence of spermatozoa, with massive apoptosis of spermatocytes
abnormal spermatocyte morphology ( J:303558 )
• massive apoptosis of spermatocytes
abnormal chromosomal synapsis ( J:303558 )
• increase in numbers of oocytes showing synapsis defects
abnormal female meiosis ( J:303558 )
• oocytes show a delay in prophase I progression with the majority of cells at zygotene stage in 17.5 dpc females, while the wild-type oocytes are mainly at pachytene stage
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




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory