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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Dnmt3aem1Hsas
endonuclease-mediated mutation 1, Hiroyuki Sasaki
MGI:7646874
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Dnmt3aem1Hsas/Dnmt3aem1Hsas C57BL/6J-Dnmt3aem1Hsas MGI:7646977
ht2
 		Dnmt3aem1Hsas/Dnmt3a+ C57BL/6J-Dnmt3aem1Hsas MGI:7646978
cx3
 		Dnmt3aem1Hsas/Dnmt3aem1Hsas
Dnmt3lem1Hsas/Dnmt3lem1Hsas 		C57BL/6J-Dnmt3aem1Hsas Dnmt3lem1Hsas MGI:7647010


Genotype
MGI:7646977
hm1
Allelic
Composition		 Dnmt3aem1Hsas/Dnmt3aem1Hsas
Genetic
Background		 C57BL/6J-Dnmt3aem1Hsas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3aem1Hsas mutation (0 available); any Dnmt3a mutation (139 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal DNA methylation during gametogenesis ( J:347433 , J:349016 )
• global reduction of CG methylation to 17.6% in full-grown oocytes (FGOs) (J:347433)
• global reduction of non-CG methylation in full-grown oocytes (FGOs) (J:347433)
• global reduction of CG methylation to 66.3% in spermatozoa (J:347433)
• lack of processive methylation in growing and full-grown oocytes (J:349016)
abnormal imprinting ( J:347433 , J:349016 )
• reduction of maternal imprinting control region (ICR) methylation to 65-34% in full-grown oocytes (FGOs) (J:347433)
• stochastic loss of imprinting control region (ICR) methylation on maternal chromosomes in E10.5 embryos with crosses of homozygous mothers and wildtype fathers (J:349016)

mortality/aging
prenatal lethality, incomplete penetrance ( J:349016 )
• frequent embryo resorption at E14.5 and E18.5 with crosses of homozygous mothers and wildtype fathers

reproductive system
abnormal DNA methylation during gametogenesis ( J:347433 , J:349016 )
• global reduction of CG methylation to 17.6% in full-grown oocytes (FGOs) (J:347433)
• global reduction of non-CG methylation in full-grown oocytes (FGOs) (J:347433)
• global reduction of CG methylation to 66.3% in spermatozoa (J:347433)
• lack of processive methylation in growing and full-grown oocytes (J:349016)
abnormal pregnancy ( J:349016 )
• frequent embryo resorption at E14.5 and E18.5 with crosses of homozygous mothers and wildtype fathers
• small embryos at E10.5 with crosses of homozygous mothers and wildtype fathers
abnormal parturition ( J:349016 )
• low delivery rate (of stillborn pups) and extended pregnancy when mated with wildtype males




Genotype
MGI:7646978
ht2
Allelic
Composition		 Dnmt3aem1Hsas/Dnmt3a+
Genetic
Background		 C57BL/6J-Dnmt3aem1Hsas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3aem1Hsas mutation (0 available); any Dnmt3a mutation (139 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
abnormal imprinting ( J:349016 )
• stochastic loss of imprinting control region (ICR) methylation on maternal chromosomes in E10.5 embryos with crosses of homozygous mothers and wildtype fathers

mortality/aging
prenatal lethality, incomplete penetrance ( J:349016 )
• very few live pups born from foster mothers carrying zygotes from crosses of homozygous mothers and wildtype fathers
• frequent embryo resorption at E14.5 and E18.5 with crosses of homozygous mothers and wildtype fathers




Genotype
MGI:7647010
cx3
Allelic
Composition		 Dnmt3aem1Hsas/Dnmt3aem1Hsas
Dnmt3lem1Hsas/Dnmt3lem1Hsas
Genetic
Background		 C57BL/6J-Dnmt3aem1Hsas Dnmt3lem1Hsas
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3aem1Hsas mutation (0 available); any Dnmt3a mutation (139 available)
Dnmt3lem1Hsas mutation (0 available); any Dnmt3l mutation (52 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
teratozoospermia ( J:347433 )
• severe impairment in motility and viability of spermatozoa obtained from epididymis
abnormal spermatid morphology ( J:347433 )
• reduced number of spermatids in seminiferous tubules
abnormal DNA methylation during gametogenesis ( J:347433 )
• global reduction of CG methylation to 6.2% in full-grown oocytes (FGOs)
• global reduction of CG methylation to 50.4% in spermatozoa
• global increase of CG methylation in spermatozoa and full-grown oocytes (FGOs)
abnormal imprinting ( J:347433 )
• reduction of maternal imprinting control region (ICR) methylation to 8-19% in full-grown oocytes (FGOs)

embryo
embryo phenotype ( J:347433 )
N
• viable
• born at approximately normal Mendelian ratios

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:347433 )
• reduced number of spermatids

mortality/aging
mortality/aging ( J:347433 )
N
• viable

reproductive system
reproductive system phenotype ( J:347433 )
N
• normal overall ovary size and normal full-grown oocyte (FGO) morphology
teratozoospermia ( J:347433 )
• severe impairment in motility and viability of spermatozoa obtained from epididymis
abnormal spermatid morphology ( J:347433 )
• reduced number of spermatids in seminiferous tubules
abnormal DNA methylation during gametogenesis ( J:347433 )
• global reduction of CG methylation to 6.2% in full-grown oocytes (FGOs)
• global reduction of CG methylation to 50.4% in spermatozoa
• global increase of CG methylation in spermatozoa and full-grown oocytes (FGOs)
abnormal seminiferous tubule morphology ( J:347433 )
• reduced number of spermatids
abnormal fertility/fecundity ( J:347433 )
• no viable pups born when crossed with WT mice




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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory