All Phenotypes Dnmt3b<tm1Enl> MGI Mouse

About Help FAQ

Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Dnmt3b^tm1Enl
targeted mutation 1, En Li
MGI:2182409

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnmt3b^tm1Enl/Dnmt3b^tm1Enl	involves: 129S4/SvJae * C57BL/6	MGI:3040301
ht2	Dnmt3b^tm1Enl/Dnmt3b^tm7Enl	involves: 129S4/SvJae * C57BL/6	MGI:3628916
ht3	Dnmt3b^tm1Enl/Dnmt3b^tm6Enl	involves: 129S4/SvJae * C57BL/6	MGI:3628914
cx4	Dnmt3a^tm2Enl/Dnmt3a^tm2Enl Dnmt3b^tm1Enl/Dnmt3b^tm1Enl	involves: 129S4/SvJae * C57BL/6	MGI:3722085
cx5	Dnmt3a^tm1Enl/Dnmt3a^tm1Enl Dnmt3b^tm1Enl/Dnmt3b^tm1Enl	involves: 129S4/SvJae * C57BL/6	MGI:3040304
cx6	Dnmt3b^MommeD14/Dnmt3b^tm1Enl Tg(HBA1-GFP)1Ew/0	involves: FVB/N	MGI:5515792

Allelic Composition	Dnmt3b^tm1Enl/Dnmt3b^tm1Enl
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3b^tm1Enl mutation (1 available); any Dnmt3b mutation (50 available)

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:106540 )

• homozygosity is lethal between E13.5 and E16.5 showing progressive necrosis; no homozygous newborn mice are found

embryonic lethality during organogenesis, incomplete penetrance ( J:106540 )

• between E11.5 and E13.5, homozygous embryos are somewhat underrepresented from expected (14% actual vs 25% expected); most live embryos recovered at E13.5 exhibit subcutaneous edema and liver atrophy

prenatal lethality, complete penetrance ( J:58298 )

• no viable homozygotes are recovered at birth

growth/size/body

embryonic growth retardation ( J:58298 )

• embryos are growth impaired

nervous system

incomplete rostral neuropore closure ( J:58298 )

• rostral neural tube closure defects are seen in homozygous embryos

cardiovascular system

abnormal interventricular septum morphology ( J:106540 )

• in homozygotes at E14.5 and E15.5, the ventricular septum is not closed completely

hemorrhage ( J:106540 )

• some embryos show ectopic hemorrhage in the head region at E13.5

• hemorrhaging in the middle of the dorsal root ganglia and in the limb region is also observed (data not shown)

liver/biliary system

small liver ( J:106540 )

embryo

embryonic growth retardation ( J:58298 )

• embryos are growth impaired

incomplete rostral neuropore closure ( J:58298 )

• rostral neural tube closure defects are seen in homozygous embryos

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
immunodeficiency-centromeric instability-facial anomalies syndrome 1		DOID:0090008	OMIM:242860	J:58298

Allelic Composition	Dnmt3b^tm1Enl/Dnmt3b^tm7Enl
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3b^tm1Enl mutation (1 available); any Dnmt3b mutation (50 available)
Dnmt3b^tm7Enl mutation (0 available); any Dnmt3b mutation (50 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:106540 )

• normal numbers of pups are born but most die within 24 hours

immune system

increased thymocyte apoptosis ( J:106540 )

• majority of P1 mutant thymocytes are dead or dying

small thymus ( J:106540 )

• thymuses of P1 mutants are much smaller than those of controls

decreased thymocyte number ( J:106540 )

• total number of thymocytes is reduced ~10 fold compared to wild-type

increased double-negative T cell number ( J:106540 )

• numbers of CD4-CD8- cells are relatively increased compared to wild-type

decreased double-positive T cell number ( J:106540 )

• numbers of CD4+CD8+ cells are reduced in mutants compared to wild-type; this is similar in all mutant phenotypes (data not shown)

growth/size/body

decreased birth weight ( J:106540 )

• at birth, mutants are less than 2/3 the weight of normal littermates

hematopoietic system

increased thymocyte apoptosis ( J:106540 )

• majority of P1 mutant thymocytes are dead or dying

small thymus ( J:106540 )

• thymuses of P1 mutants are much smaller than those of controls

decreased thymocyte number ( J:106540 )

• total number of thymocytes is reduced ~10 fold compared to wild-type

increased double-negative T cell number ( J:106540 )

• numbers of CD4-CD8- cells are relatively increased compared to wild-type

decreased double-positive T cell number ( J:106540 )

• numbers of CD4+CD8+ cells are reduced in mutants compared to wild-type; this is similar in all mutant phenotypes (data not shown)

cellular

increased thymocyte apoptosis ( J:106540 )

• majority of P1 mutant thymocytes are dead or dying

endocrine/exocrine glands

increased thymocyte apoptosis ( J:106540 )

• majority of P1 mutant thymocytes are dead or dying

small thymus ( J:106540 )

• thymuses of P1 mutants are much smaller than those of controls

decreased thymocyte number ( J:106540 )

• total number of thymocytes is reduced ~10 fold compared to wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
immunodeficiency-centromeric instability-facial anomalies syndrome 1		DOID:0090008	OMIM:242860	J:106540

Allelic Composition	Dnmt3b^tm1Enl/Dnmt3b^tm6Enl
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3b^tm1Enl mutation (1 available); any Dnmt3b mutation (50 available)
Dnmt3b^tm6Enl mutation (0 available); any Dnmt3b mutation (50 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:106540 )

• normal numbers of pups are born but most die within 24 hours

immune system

increased thymocyte apoptosis ( J:106540 )

• at P1, many thymocytes are dead or dying

small thymus ( J:106540 )

decreased thymocyte number ( J:106540 )

growth/size/body

decreased birth weight ( J:106540 )

• at birth, mutants are less than 2/3 the weight of normal littermates

hematopoietic system

increased thymocyte apoptosis ( J:106540 )

• at P1, many thymocytes are dead or dying

small thymus ( J:106540 )

decreased thymocyte number ( J:106540 )

cellular

increased thymocyte apoptosis ( J:106540 )

• at P1, many thymocytes are dead or dying

endocrine/exocrine glands

increased thymocyte apoptosis ( J:106540 )

• at P1, many thymocytes are dead or dying

small thymus ( J:106540 )

decreased thymocyte number ( J:106540 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
immunodeficiency-centromeric instability-facial anomalies syndrome 1		DOID:0090008	OMIM:242860	J:106540

Allelic Composition	Dnmt3a^tm2Enl/Dnmt3a^tm2Enl Dnmt3b^tm1Enl/Dnmt3b^tm1Enl
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3a^tm2Enl mutation (1 available); any Dnmt3a mutation (138 available)
Dnmt3b^tm1Enl mutation (1 available); any Dnmt3b mutation (50 available)

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

cellular

abnormal DNA methylation ( J:116773 )

• the methylation levels of E8.5 and E9.5 embryos are lower than in wild-type embryos of the same stage and resembles wild-type blastocyst levels of methylation

Allelic Composition	Dnmt3a^tm1Enl/Dnmt3a^tm1Enl Dnmt3b^tm1Enl/Dnmt3b^tm1Enl
Genetic Background	involves: 129S4/SvJae * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3a^tm1Enl mutation (1 available); any Dnmt3a mutation (138 available)
Dnmt3b^tm1Enl mutation (1 available); any Dnmt3b mutation (50 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:58298 )

• die before E11.5

embryo

incomplete embryo turning ( J:58298 )

• embryos do not undergo embryonic turning

absent somites ( J:58298 )

• by E8.5 embryos lack somites

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
immunodeficiency-centromeric instability-facial anomalies syndrome 1		DOID:0090008	OMIM:242860	J:58298

Allelic Composition	Dnmt3b^MommeD14/Dnmt3b^tm1Enl Tg(HBA1-GFP)1Ew/0
Genetic Background	involves: FVB/N

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnmt3b^MommeD14 mutation (0 available); any Dnmt3b mutation (50 available)
Dnmt3b^tm1Enl mutation (1 available); any Dnmt3b mutation (50 available)
Tg(HBA1-GFP)1Ew mutation (0 available)

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

cellular

abnormal epigenetic regulation of gene expression ( J:198944 )

• compound heterozygous mice display a higher percentage of GFP-expressing cells than heterozygotes

• significantly reduced methylation of transgene DNA in homozygous individuals (28 % of CpGs methylated) compared with wild type littermates (62 % of CpGs methylated), consistent with the change in transcriptional activity

growth/size/body

abnormal head morphology ( J:198944 )

• hypotelorism and other cranial defects are seen, similar to phenotypes of other alleles of this gene

decreased body height ( J:198944 )

• small in stature

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23