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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
4930447C04Rikem1Amp
endonuclease-mediated mutation 1, Alberto M Pendas
MGI:5823358
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
4930447C04Rikem1Amp/4930447C04Rikem1Amp involves: C57BL/6J * CBA/J MGI:5898142


Genotype
MGI:5898142
hm1
Allelic
Composition
4930447C04Rikem1Amp/4930447C04Rikem1Amp
Genetic
Background
involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
4930447C04Rikem1Amp mutation (0 available); any 4930447C04Rik mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• absence of postmeiotic cell types
• failure of synapsis formation and arrest in a pachytene-like stage
• complete desynapsis but with the full integrity of axial elements
• impaired processing of recombination intermediates into chiasmata
• in a subset of meiocytes poorly aligned or unaligned chromosome pairs are detected
• misaligned chromosomes are more frequently seen in oocytes compared to spermatocytes
• absence of postmeiotic cell types
• X-Y chromosome alignment occurs in only 25.49 +/- 0.06% of cells
• in spermatocytes lacking X-Y alignment the sex body is not formed
• arrest at stage IV at which point there is massive apoptosis of spermatocytes
• arrest at stage IV at which point there is massive apoptosis of spermatocytes
• extensive apoptosis of spermatocytes is detected at 18 days of age during the first wave of meiosis
• absence of oogenesis
• at 4 months of age
• dense stroma at 4 months of age
• severe ovarian dysgenesis at 6 days of age
• at 6 days of age follicle numbers are reduced
• lack postmeiotic cell types
• testes size is 30% of wild-type

endocrine/exocrine glands
• dense stroma at 4 months of age
• severe ovarian dysgenesis at 6 days of age
• at 6 days of age follicle numbers are reduced
• lack postmeiotic cell types
• testes size is 30% of wild-type

cellular
• absence of postmeiotic cell types
• failure of synapsis formation and arrest in a pachytene-like stage
• complete desynapsis but with the full integrity of axial elements
• impaired processing of recombination intermediates into chiasmata
• in a subset of meiocytes poorly aligned or unaligned chromosome pairs are detected
• misaligned chromosomes are more frequently seen in oocytes compared to spermatocytes
• absence of postmeiotic cell types
• X-Y chromosome alignment occurs in only 25.49 +/- 0.06% of cells
• in spermatocytes lacking X-Y alignment the sex body is not formed
• arrest at stage IV at which point there is massive apoptosis of spermatocytes
• arrest at stage IV at which point there is massive apoptosis of spermatocytes
• extensive apoptosis of spermatocytes is detected at 18 days of age during the first wave of meiosis
• absence of oogenesis
• at 4 months of age





Contributing Projects:
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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last database update
10/29/2024
MGI 6.24
The Jackson Laboratory