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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ankrd31em1Atot
endonuclease-mediated mutation 1, Attila Toth
MGI:6343192
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ankrd31em1Atot/Ankrd31em1Atot involves: C57BL/6J MGI:7450820


Genotype
MGI:7450820
hm1
Allelic
Composition
Ankrd31em1Atot/Ankrd31em1Atot
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ankrd31em1Atot mutation (0 available); any Ankrd31 mutation (39 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• at 6-7 weeks of age, median oocyte numbers are 4.95-fold lower than in wild-type females
• reduction in oocyte number is associated with elevated rates of apoptosis
• both MEI4 and REC114 foci appear with delayed kinetics in spermatocytes; however, MEI4 and REC114 foci accumulate by zygotene and persist until SC formation is complete
• although MEI4 and REC114 foci eventually form, no MEI4 or REC114 aggregates are observed in PARs or autosome ends
• accumulation of DSB recombination intermediates is delayed in meiocytes of both sexes
• persistence of recombination foci in late prophase spermatocytes and oocytes indicates defective and/or delayed DSB repair
• no spermatocytes exhibit chiasmata between X and Y chromosomes, as detected by FISH
• in addition, 10.12% of spermatocytes also lack a chiasma between an autosome pair
• at 16 dpc, fetuses exhibit higher rates of asynapsis in mid-pachytene oocytes (54.76%) than in wild-type oocytes (22.96%)
• oocytes show delayed accumulation of RAD51, DMC1, and RPA foci
• spermatocytes show delayed accumulation of RAD51, DMC1, and RPA foci; focus numbers remain abnormally low until early zygotene, increasing only after chromosome axes are fully formed (late zygotene-like stage)
• although MLH1 foci form on autosomes in normal numbers in most spermatocytes, MLH1 foci are always absent from the PARs of sex chromosomes in pachytene cells, indicating loss of PAR-associated crossovers
• RPA (DSB) foci are present only in 20.9% of spermatocytes in late zygotene or early pachytene
• a shift from the use of PRDM9-dependent B6 hotspots toward default hotspots is observed with a severe reduction in DSB activity noted in and around the PAR but with no significant changes in histone H3K4me3 distribution
• PARs fail to synapse in 99.7% and 99% of pachytene spermatocytes from adult or juvenile male mice, respectively
• a dominant fraction of spermatocytes (76%) show unsynapsed X and Y chromosomes without any other obvious defects
• minor fractions show self-synapsed or short Y axes (12.5%), X-autosome fusions (6.6%), or circularized Y (4.8%)
• a fraction of spermatocytes progress to the first meiotic metaphase where they arrest
• metaphase arrest is likely due to loss of PAR-associated crossovers in spermatocytes
• although chromosome axes do form with wild-type kinetics, spermatocytes of 13-day-old juvenile mice show delayed autosomal synaptonemal complex (SC) formation; despite this delay, most spermatocytes appear to complete autosomal SC formation in adults with no obvious non-homologous interactions in pachytene-stage spermatocytes
• SC formation is compromised in oocytes resulting in higher rates of asynapsis in mid-pachytene oocytes (54.76%) relative to wild-type oocytes (22.96%) in 16 dpc fetuses
• SC formation shows more penetrant defects between the pseudoautosomal regions (PARs) of the heterologous sex chromosomes in males
• ovaries of newborn females show an increased fraction of apoptotic oocytes, as determined by cleaved PARP1 staining
• spermatocytes show elevated apoptosis after mid-pachytene stage
• most metaphase spermatocytes undergo apoptosis; only few post-meiotic cells are detected
• a significantly increased proportion of seminiferous tubules contain metaphase I spermatocytes
• stage XII-like spermatocytes often contain chromosomes that do not line up at the metaphase plate, indicating chromosome alignment defects
• adult testes weight is 2.7-fold lower than in wild-type males
• female mice lose their fertility faster than wild type females in advanced age
• after 28 weeks of age, females show a significant reduction in average numbers of pups per breeding week relative to age-matched wild-type females (0.45 versus 0.92, respectively)
• however, no significant differences are noted between 8-28 weeks of age
• male mice fail to produce pups after 88 weeks of breeding

mortality/aging
• female mice lose their fertility faster than wild type females in advanced age

cellular
• at 6-7 weeks of age, median oocyte numbers are 4.95-fold lower than in wild-type females
• reduction in oocyte number is associated with elevated rates of apoptosis
• both MEI4 and REC114 foci appear with delayed kinetics in spermatocytes; however, MEI4 and REC114 foci accumulate by zygotene and persist until SC formation is complete
• although MEI4 and REC114 foci eventually form, no MEI4 or REC114 aggregates are observed in PARs or autosome ends
• accumulation of DSB recombination intermediates is delayed in meiocytes of both sexes
• persistence of recombination foci in late prophase spermatocytes and oocytes indicates defective and/or delayed DSB repair
• no spermatocytes exhibit chiasmata between X and Y chromosomes, as detected by FISH
• in addition, 10.12% of spermatocytes also lack a chiasma between an autosome pair
• at 16 dpc, fetuses exhibit higher rates of asynapsis in mid-pachytene oocytes (54.76%) than in wild-type oocytes (22.96%)
• oocytes show delayed accumulation of RAD51, DMC1, and RPA foci
• spermatocytes show delayed accumulation of RAD51, DMC1, and RPA foci; focus numbers remain abnormally low until early zygotene, increasing only after chromosome axes are fully formed (late zygotene-like stage)
• although MLH1 foci form on autosomes in normal numbers in most spermatocytes, MLH1 foci are always absent from the PARs of sex chromosomes in pachytene cells, indicating loss of PAR-associated crossovers
• RPA (DSB) foci are present only in 20.9% of spermatocytes in late zygotene or early pachytene
• a shift from the use of PRDM9-dependent B6 hotspots toward default hotspots is observed with a severe reduction in DSB activity noted in and around the PAR but with no significant changes in histone H3K4me3 distribution
• PARs fail to synapse in 99.7% and 99% of pachytene spermatocytes from adult or juvenile male mice, respectively
• a dominant fraction of spermatocytes (76%) show unsynapsed X and Y chromosomes without any other obvious defects
• minor fractions show self-synapsed or short Y axes (12.5%), X-autosome fusions (6.6%), or circularized Y (4.8%)
• a fraction of spermatocytes progress to the first meiotic metaphase where they arrest
• metaphase arrest is likely due to loss of PAR-associated crossovers in spermatocytes
• although chromosome axes do form with wild-type kinetics, spermatocytes of 13-day-old juvenile mice show delayed autosomal synaptonemal complex (SC) formation; despite this delay, most spermatocytes appear to complete autosomal SC formation in adults with no obvious non-homologous interactions in pachytene-stage spermatocytes
• SC formation is compromised in oocytes resulting in higher rates of asynapsis in mid-pachytene oocytes (54.76%) relative to wild-type oocytes (22.96%) in 16 dpc fetuses
• SC formation shows more penetrant defects between the pseudoautosomal regions (PARs) of the heterologous sex chromosomes in males
• ovaries of newborn females show an increased fraction of apoptotic oocytes, as determined by cleaved PARP1 staining
• spermatocytes show elevated apoptosis after mid-pachytene stage
• most metaphase spermatocytes undergo apoptosis; only few post-meiotic cells are detected
• RAD51, DMC1, and RPA foci persist in abnormally high numbers until late prophase in spermatocytes, indicating a double-strand break (DSB) repair defect
• both RPA and gammaH2AX signals persist longer in late prophase in oocytes

endocrine/exocrine glands
• a significantly increased proportion of seminiferous tubules contain metaphase I spermatocytes
• stage XII-like spermatocytes often contain chromosomes that do not line up at the metaphase plate, indicating chromosome alignment defects
• adult testes weight is 2.7-fold lower than in wild-type males

homeostasis/metabolism
• RAD51, DMC1, and RPA foci persist in abnormally high numbers until late prophase in spermatocytes, indicating a double-strand break (DSB) repair defect
• both RPA and gammaH2AX signals persist longer in late prophase in oocytes





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory