All Phenotypes Dnmt3b<tm1Enl> MGI Mouse

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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 (52 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 (52 available)
Dnmt3b^tm7Enl mutation (0 available); any Dnmt3b mutation (52 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 (52 available)
Dnmt3b^tm6Enl mutation (0 available); any Dnmt3b mutation (52 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 (139 available)
Dnmt3b^tm1Enl mutation (1 available); any Dnmt3b mutation (52 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 (139 available)
Dnmt3b^tm1Enl mutation (1 available); any Dnmt3b mutation (52 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 (52 available)
Dnmt3b^tm1Enl mutation (1 available); any Dnmt3b mutation (52 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

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