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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rnf212bem1Amp
endonuclease-mediated mutation 1, Alberto M Pendas
MGI:8473469
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rnf212bem1Amp/Rnf212bem1Amp involves: C57BL/6J * CBA/J MGI:8473583
cx2
Rnf212em1Amp/Rnf212em1Amp
Rnf212bem1Amp/Rnf212bem1Amp
involves: C57BL/6J * CBA/J MGI:8473588
cx3
Rnf212em1Amp/Rnf212+
Rnf212bem1Amp/Rnf212b+
involves: C57BL/6J * CBA/J MGI:8473589


Genotype
MGI:8473583
hm1
Allelic
Composition
Rnf212bem1Amp/Rnf212bem1Amp
Genetic
Background
involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnf212bem1Amp mutation (0 available); any Rnf212b mutation (3 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
• spermatocytes and oocytes show a deficiency in crossover licensing
• mice show a reduction of the localization of pro-crossover factors (MSH4, TEX11, RPA, MZIP2) and absence of late crossover-intermediates (MLH1) and this loss of most crossovers by diakinesis results in mostly univalent chromosomes
• pachytene oocytes from females lack MLH1 foci and metaphase I chromosomes have no chiasmata
• most of the metaphase I/diakinesis spermatocytes display univalent chromosomes with only a fraction forming chiasmata
• loss of most crossovers ultimately leads to loss of most chiasmata
• mice exhibit synapsis defects between the sex chromosomes
• 25.7% of oocytes show synapsis defects; oocyte chromosome spreads show non-homologous synapsis involving several autosomes
• oocytes show a deficiency in crossover licensing
• however, ovaries are normal is size and show follicles at different states of folliculogenesis and several corpora lutea and ovaries at 4, 10, and 63-70 dpp show a slight, but not significant, reduction in the number of primordial follicles
• spermatocytes show a deficiency in crossover licensing
• 32.2% of pachynemas show XY defects and extended gammaH2AX (phosphorylated form of histone H2AX) signal beyond the Sex Body into the autosomal domain
• pachytene spermatocytes exhibit structural abnormalities involving the X and Y chromosomes, including ring chromosomes, fusions between X and an autosome, and autosynapsis of the X chromosome
• spermatocyte accumulation is seen in tubules at stage XII of the seminiferous epithelial cycle with massive apoptosis of spermatocytes that fail to carry out the first meiotic division, and absence of spermatocytes progressing beyond this stage, suggesting a metaphase I arrest
• however, males show no differences in DNA double-strand break (DSB) induction in leptonema or zygonema, indicating normal progression of early DSB processing events
• pachytene spermatocytes (corresponding to stage IV of the seminiferous epithelial cycle) are seen entering into apoptosis
• testes weight is reduced by 70%
• males and females are sterile

endocrine/exocrine glands
• testes weight is reduced by 70%

cellular
• spermatocytes and oocytes show a deficiency in crossover licensing
• mice show a reduction of the localization of pro-crossover factors (MSH4, TEX11, RPA, MZIP2) and absence of late crossover-intermediates (MLH1) and this loss of most crossovers by diakinesis results in mostly univalent chromosomes
• pachytene oocytes from females lack MLH1 foci and metaphase I chromosomes have no chiasmata
• most of the metaphase I/diakinesis spermatocytes display univalent chromosomes with only a fraction forming chiasmata
• loss of most crossovers ultimately leads to loss of most chiasmata
• mice exhibit synapsis defects between the sex chromosomes
• 25.7% of oocytes show synapsis defects; oocyte chromosome spreads show non-homologous synapsis involving several autosomes
• oocytes show a deficiency in crossover licensing
• however, ovaries are normal is size and show follicles at different states of folliculogenesis and several corpora lutea and ovaries at 4, 10, and 63-70 dpp show a slight, but not significant, reduction in the number of primordial follicles
• spermatocytes show a deficiency in crossover licensing
• 32.2% of pachynemas show XY defects and extended gammaH2AX (phosphorylated form of histone H2AX) signal beyond the Sex Body into the autosomal domain
• pachytene spermatocytes exhibit structural abnormalities involving the X and Y chromosomes, including ring chromosomes, fusions between X and an autosome, and autosynapsis of the X chromosome
• spermatocyte accumulation is seen in tubules at stage XII of the seminiferous epithelial cycle with massive apoptosis of spermatocytes that fail to carry out the first meiotic division, and absence of spermatocytes progressing beyond this stage, suggesting a metaphase I arrest
• however, males show no differences in DNA double-strand break (DSB) induction in leptonema or zygonema, indicating normal progression of early DSB processing events
• pachytene spermatocytes (corresponding to stage IV of the seminiferous epithelial cycle) are seen entering into apoptosis




Genotype
MGI:8473588
cx2
Allelic
Composition
Rnf212em1Amp/Rnf212em1Amp
Rnf212bem1Amp/Rnf212bem1Amp
Genetic
Background
involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnf212bem1Amp mutation (0 available); any Rnf212b mutation (3 available)
Rnf212em1Amp mutation (0 available); any Rnf212 mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
• mice show a reduction of the localization of pro-crossover factors (MSH4, TEX11, RPA, MZIP2) and absence of late crossover-intermediates (MLH1) and this loss of most crossovers by diakinesis results in mostly univalent chromosomes
• aberrant synapsis and structural abnormalities in the XY chromosome pair that include X-autosomes fusions, X Y ring chromosomes, XY autosynapsis, and unpaired and X or Y autosynapsis

reproductive system
• mice show a reduction of the localization of pro-crossover factors (MSH4, TEX11, RPA, MZIP2) and absence of late crossover-intermediates (MLH1) and this loss of most crossovers by diakinesis results in mostly univalent chromosomes
• aberrant synapsis and structural abnormalities in the XY chromosome pair that include X-autosomes fusions, X Y ring chromosomes, XY autosynapsis, and unpaired and X or Y autosynapsis




Genotype
MGI:8473589
cx3
Allelic
Composition
Rnf212em1Amp/Rnf212+
Rnf212bem1Amp/Rnf212b+
Genetic
Background
involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnf212bem1Amp mutation (0 available); any Rnf212b mutation (3 available)
Rnf212em1Amp mutation (0 available); any Rnf212 mutation (11 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
reproductive system
• mice show a more severe phenotype in the number of nascent crossovers with fewer MLH1 foci relative to single heterozygous mutants
• 37.5% of mice fail to have offspring after mating for 3 months

cellular
• mice show a more severe phenotype in the number of nascent crossovers with fewer MLH1 foci relative to single heterozygous mutants





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last database update
10/06/2026
MGI 6.29
The Jackson Laboratory