Phenotypes Associated with This Genotype

Genotype
MGI:3628916

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

• ♀: 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