Phenotypes associated with this allele

• Allele Symbol: Dnmt3l^em1Hsas
• Allele Name: endonuclease-mediated mutation 1, Hiroyuki Sasaki
• Allele ID: MGI:7646871
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnmt3l^em1Hsas/Dnmt3l^em1Hsas	C57BL/6J-Dnmt3l^em1Hsas	MGI:7647012
cx2	Dnmt3a^em1Hsas/Dnmt3a^em1Hsas Dnmt3l^em1Hsas/Dnmt3l^em1Hsas	C57BL/6J-Dnmt3a^em1Hsas Dnmt3l^em1Hsas	MGI:7647010

Genotype
MGI:7647012

hm1

• Allelic Composition: Dnmt3l^em1Hsas/Dnmt3l^em1Hsas
• Genetic Background: C57BL/6J-Dnmt3l^em1Hsas

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

abnormal DNA methylation during gametogenesis ( J:347433 )

• global reduction of CG methylation to 26.6% in full-grown oocytes (FGOs)

• global reduction of non-CG methylation in full-grown oocytes (FGOs)

• global reduction of CG methylation to 75.4% in spermatozoa

abnormal imprinting ( J:347433 )

♀ • reduction of maternal imprinting control region (ICR) methylation to 86-61% in full-grown oocytes (FGOs)

reproductive system

reproductive system phenotype ( J:347433 )

N • normal male and female fertility

abnormal DNA methylation during gametogenesis ( J:347433 )

• global reduction of CG methylation to 26.6% in full-grown oocytes (FGOs)

• global reduction of non-CG methylation in full-grown oocytes (FGOs)

• global reduction of CG methylation to 75.4% in spermatozoa

Genotype
MGI:7647010

cx2

• Allelic Composition: Dnmt3a^em1Hsas/Dnmt3a^em1Hsas; Dnmt3l^em1Hsas/Dnmt3l^em1Hsas
• Genetic Background: C57BL/6J-Dnmt3a^em1Hsas Dnmt3l^em1Hsas

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

N • 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

external male genitalia hypoplasia ( J:347433 )

♂ • small testes

abnormal fertility/fecundity ( J:347433 )

• no viable pups born when crossed with WT mice