All Phenotypes Hdac8<tm1.2Eno> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Hdac8^tm1.2Eno
targeted mutation 1.2, Eric N Olson
MGI:3851815

Summary

7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hdac8^tm1.2Eno/Hdac8^tm1.2Eno	involves: 129 * C57BL/6 * CD-1	MGI:3851911
ht2	Hdac8^tm1.2Eno/Hdac8⁺	involves: 129 * C57BL/6 * CD-1	MGI:3851912
cn3	Hdac8^tm1.1Eno/Hdac8^tm1.2Eno Tg(Ddx4-cre)1Dcas/0	involves: 129S6/SvEvTac * C57BL/6J * FVB	MGI:6835645
cx4	Hdac8^tm1.2Eno/Hdac8⁺ Tg(CAG-Hdac8,-EGFP)1Eno/0	involves: 129 * C57BL/6 * C3H * CD-1	MGI:3851913
cx5	Eif2ak2^tm1Cwe/Eif2ak2^tm1Cwe Hdac8^tm1.2Eno/Y	involves: 129/Sv * 129S6/SvEvTac * C57BL/6J	MGI:7491953
ot6	Hdac8^tm1.2Eno/Y	involves: 129 * C57BL/6 * CD-1	MGI:3851910
ot7	Hdac8^tm1.2Eno/Y	involves: 129S6/SvEvTac * C57BL/6J	MGI:7491951

Allelic Composition	Hdac8^tm1.2Eno/Hdac8^tm1.2Eno
Genetic Background	involves: 129 * C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hdac8^tm1.2Eno mutation (0 available); any Hdac8 mutation (8 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:150709 )

• Background Sensitivity: penetrance of the lethal phenotype increases to 100% after 2 backcrosses to C57BL/6

neonatal lethality, incomplete penetrance ( J:150709 )

• Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

growth/size/body

decreased embryo weight ( J:150709 )

• E18.5 embryo size is slightly decreased in size and weight

cardiovascular system

intracranial hemorrhage ( J:150709 )

• Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

• Background Sensitivity: penetrance of the bleeding phenotype increases to 100% after 2 backcrosses to C57BL/6

• Background Sensitivity: hemorrhaging results from ossification defects in the skull

craniofacial

frontal bone foramen ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

• Background Sensitivity: phenotype depends on degree of backcrossing to C57BL/6 and ranges from a small persistent anterior fontanelle to severe frontocranial dysplasia with obvious biomechanical instability

nervous system

intracranial hemorrhage ( J:150709 )

• Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

• Background Sensitivity: penetrance of the bleeding phenotype increases to 100% after 2 backcrosses to C57BL/6

• Background Sensitivity: hemorrhaging results from ossification defects in the skull

exencephaly ( J:150709 )

• some severe cases have herniation of brain and other soft tissue through the top of the skull

skeleton

frontal bone foramen ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

failure of intramembranous bone ossification ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone and incomplete skull closure

embryo

decreased embryo weight ( J:150709 )

• E18.5 embryo size is slightly decreased in size and weight

Allelic Composition	Hdac8^tm1.2Eno/Hdac8⁺
Genetic Background	involves: 129 * C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hdac8^tm1.2Eno mutation (0 available); any Hdac8 mutation (8 available)

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:150709 )

• Background Sensitivity: after several backcrosses to C57BL/6, some mice die within 4-6 hours after birth from brain hemorrhaging

cellular

genetic imprinting ( J:150709 )

• Background Sensitivity: neonatal lethality of heterozygote female mice possibly results from random X-linked inactivation of the wild-type allele as the phenotype can be rescued by a transgene expressing Hdac8 (i.e. mutant allele is not a dominant-negative)

cardiovascular system

intracranial hemorrhage ( J:150709 )

• Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

• Background Sensitivity: penetrance of the bleeding phenotype increases to 100% after 2 backcrosses to C57BL/6

• Background Sensitivity: hemorrhaging results from ossification defects in the skull

craniofacial

frontal bone foramen ( J:150709 )

embryo

decreased embryo weight ( J:150709 )

• E18.5 embryo size is slightly decreased in size and weight

growth/size/body

decreased embryo weight ( J:150709 )

• E18.5 embryo size is slightly decreased in size and weight

nervous system

intracranial hemorrhage ( J:150709 )

• Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

• Background Sensitivity: penetrance of the bleeding phenotype increases to 100% after 2 backcrosses to C57BL/6

• Background Sensitivity: hemorrhaging results from ossification defects in the skull

exencephaly ( J:150709 )

• some severe cases have herniation of brain and other soft tissue through the top of the skull

skeleton

frontal bone foramen ( J:150709 )

failure of intramembranous bone ossification ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone and incomplete skull closure

Allelic Composition	Hdac8^tm1.1Eno/Hdac8^tm1.2Eno Tg(Ddx4-cre)1Dcas/0
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J * FVB

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hdac8^tm1.1Eno mutation (0 available); any Hdac8 mutation (8 available)
Hdac8^tm1.2Eno mutation (0 available); any Hdac8 mutation (8 available)
Tg(Ddx4-cre)1Dcas mutation (2 available)

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

reproductive system

reproductive system phenotype ( J:285736 )

N	• females exhibit normal ovarian histology and follicle counts at 18 days (prepubertal) and at 7 months of age, indicating normal folliculogenesis

abnormal oogenesis ( J:285736 )

• reduced female fertility is likely due to subtle defects in oogenesis resulting in smaller oocytes with compromised cytoplasmic competence

abnormal oocyte morphology ( J:285736 )

• fully grown oocytes from hyperstimulated females are significantly smaller than control oocytes, as determined by germinal vesicle diameter

abnormal female meiosis ( J:285736 )

• in vitro oocyte maturation (IVM) analysis revealed that only 80% of germinal vesicle-intact oocytes arrested in prophase of meiosis I are able to resume meiosis and reach metaphase of meiosis I (MI) within 8 h relative to ~90% in controls

• however, spindle morphology and chromosome alignment are normal at the MI stage and no chromosome segregation defects are observed following IVM

reduced female fertility ( J:285736 )

• females show a mild subfertility phenotype

decreased litter size ( J:285736 )

• when bred with wild type male mice for 6 months, adult females produce a significantly lower average litter size than controls

cellular

abnormal oogenesis ( J:285736 )

• reduced female fertility is likely due to subtle defects in oogenesis resulting in smaller oocytes with compromised cytoplasmic competence

abnormal oocyte morphology ( J:285736 )

• fully grown oocytes from hyperstimulated females are significantly smaller than control oocytes, as determined by germinal vesicle diameter

abnormal female meiosis ( J:285736 )

• however, spindle morphology and chromosome alignment are normal at the MI stage and no chromosome segregation defects are observed following IVM

embryo

embryo phenotype ( J:285736 )

N	• in culture, the % of zygotes progressing to the blastocyst stage is not significantly different from that in controls, suggesting normal preimplantation embryo development

Allelic Composition	Hdac8^tm1.2Eno/Hdac8⁺ Tg(CAG-Hdac8,-EGFP)1Eno/0
Genetic Background	involves: 129 * C57BL/6 * C3H * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hdac8^tm1.2Eno mutation (0 available); any Hdac8 mutation (8 available)
Tg(CAG-Hdac8,-EGFP)1Eno mutation (0 available)

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

normal phenotype

no abnormal phenotype detected ( J:150709 )

• no abnormal phenotype is detected in skull development

Allelic Composition	Eif2ak2^tm1Cwe/Eif2ak2^tm1Cwe Hdac8^tm1.2Eno/Y
Genetic Background	involves: 129/Sv * 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eif2ak2^tm1Cwe mutation (2 available); any Eif2ak2 mutation (37 available)
Hdac8^tm1.2Eno mutation (0 available); any Hdac8 mutation (8 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:297059 )

• viability is increased up to 57% for mutant mice homozygous for the mutation in Eif2ak2 compared to mutant mice wild-type for Eif2ak2 (~30% viability)

limbs/digits/tail

abnormal limb morphology ( J:297059 )

• increase in forelimb length compared to mutant mice wild-type for Eif2ak2

Allelic Composition	Hdac8^tm1.2Eno/Y
Genetic Background	involves: 129 * C57BL/6 * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hdac8^tm1.2Eno mutation (0 available); any Hdac8 mutation (8 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:150709 )

• Background Sensitivity: penetrance of the lethal phenotype increases to 100% after 2 backcrosses to C57BL/6

neonatal lethality, incomplete penetrance ( J:150709 )

• Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

growth/size/body

decreased embryo weight ( J:150709 )

• E18.5 embryo size is slightly decreased in size and weight

craniofacial

frontal bone foramen ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

cardiovascular system

intracranial hemorrhage ( J:150709 )

• Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

• Background Sensitivity: penetrance of the bleeding phenotype increases to 100% after 2 backcrosses to C57BL/6

• Background Sensitivity: hemorrhaging results from ossification defects in the skull

skeleton

frontal bone foramen ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone

failure of intramembranous bone ossification ( J:150709 )

• ossification defects lead to the presence of soft tissues in the frontal and interparietal bone and incomplete skull closure

nervous system

intracranial hemorrhage ( J:150709 )

• Background Sensitivity: some mice on a mixed background die within 4-6 hours after birth from brain hemorrhaging

• Background Sensitivity: penetrance of the bleeding phenotype increases to 100% after 2 backcrosses to C57BL/6

• Background Sensitivity: hemorrhaging results from ossification defects in the skull

exencephaly ( J:150709 )

• some severe cases have herniation of brain and other soft tissue through the top of the skull

embryo

decreased embryo weight ( J:150709 )

• E18.5 embryo size is slightly decreased in size and weight

Allelic Composition	Hdac8^tm1.2Eno/Y
Genetic Background	involves: 129S6/SvEvTac * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hdac8^tm1.2Eno mutation (0 available); any Hdac8 mutation (8 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:297059 )

• viability after birth is reduced to 30%

embryo

decreased embryo weight ( J:297059 )

• 8% reduction in weight at E14.5

abnormal placenta junctional zone morphology ( J:297059 )

• increase in the junctional zone

abnormal spongiotrophoblast cell morphology ( J:297059 )

• spongiotrophoblasts have more diploid DNA content at E14.5

increased placenta weight ( J:297059 )

• placentas are 9% heavier at E14.5

abnormal placenta physiology ( J:297059 )

• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in trophoblast giant cells and spongiotrophoblasts but not in glycogen cells in the placenta

• at E14.5 but not E9.5 elevated signals of senescence are seen in spongiotrophoblasts

cellular

abnormal chromosome number ( J:297059 )

• spongiotrophoblasts have more diploid DNA content at E14.5

abnormal DNA repair ( J:297059 )

• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in trophoblast giant cells and spongiotrophoblasts but not in glycogen cells in the placenta

limbs/digits/tail

short forelimb ( J:297059 )

• reduced forelimb length at E14.5

growth/size/body

decreased embryo weight ( J:297059 )

• 8% reduction in weight at E14.5

homeostasis/metabolism

abnormal DNA repair ( J:297059 )

• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in trophoblast giant cells and spongiotrophoblasts but not in glycogen cells in the placenta

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cornelia de Lange syndrome 5		DOID:0080509	OMIM:300882	J:297059

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