Phenotypes associated with this allele

• Allele Symbol: Dnmt3b^tm7Enl
• Allele Name: targeted mutation 7, En Li
• Allele ID: MGI:3628447
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dnmt3b^tm7Enl/Dnmt3b^tm7Enl	involves: 129S4/SvJae * C57BL/6	MGI:3628826
ht2	Dnmt3b^tm6Enl/Dnmt3b^tm7Enl	involves: 129S4/SvJae * C57BL/6	MGI:3628828
ht3	Dnmt3b^tm1Enl/Dnmt3b^tm7Enl	involves: 129S4/SvJae * C57BL/6	MGI:3628916

Genotype
MGI:3628826

hm1

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

• ♀: 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

postnatal lethality, complete penetrance ( J:106540 )

• almost no (only 3) homozygous mice survive to weaning

immune system

increased thymocyte apoptosis ( J:106540 )

• at P1, many 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 )

hematopoietic system

increased thymocyte apoptosis ( J:106540 )

• at P1, many 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 )

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 )

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

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

Genotype
MGI:3628828

ht2

• Allelic Composition: Dnmt3b^tm6Enl/Dnmt3b^tm7Enl
• Genetic Background: involves: 129S4/SvJae * C57BL/6

mortality/aging

neonatal lethality, incomplete penetrance ( J:106540 )

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

postnatal lethality, complete penetrance ( J:106540 )

• almost no (only 1) homozygous mice survive to weaning

growth/size/body

abnormal nasal bone morphology ( J:106540 )

• skeletons of newborn mutants show similar defect to that seen in adult Dnmt3b^tm7Enl mutants

decreased birth weight ( J:106540 )

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

craniofacial

abnormal nasal bone morphology ( J:106540 )

• skeletons of newborn mutants show similar defect to that seen in adult Dnmt3b^tm7Enl mutants

skeleton

abnormal nasal bone morphology ( J:106540 )

• skeletons of newborn mutants show similar defect to that seen in adult Dnmt3b^tm7Enl mutants

immune system

increased thymocyte apoptosis ( J:106540 )

• at P1, many thymocytes are dead or dying

decreased thymocyte number ( J:106540 )

hematopoietic system

increased thymocyte apoptosis ( J:106540 )

• at P1, many thymocytes are dead or dying

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

decreased thymocyte number ( J:106540 )

respiratory system

abnormal nasal bone morphology ( J:106540 )

• skeletons of newborn mutants show similar defect to that seen in adult Dnmt3b^tm7Enl mutants

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

Genotype
MGI:3628916

ht3

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

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