All Phenotypes Naa10<tm1.1Yzhg> MGI Mouse

Phenotypes associated with this allele

Allelic Composition	Naa10^tm1.1Yzhg/Naa10^tm1.1Yzhg
Genetic Background	B6.129(FVB)-Naa10^tm1.1Yzhg/Yzhg

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naa10^tm1.1Yzhg mutation (0 available); any Naa10 mutation (10 available)

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:251884 )

• when heterozygous (-/X) female mice are crossed with hemizygous male (-/Y) mice, the birthrate of homozygous female progeny is only 12% versus expected 25%

embryonic lethality during organogenesis, incomplete penetrance ( J:251884 )

• 27% of homozygous females die with developmental defects during E12.5-E14.5

growth/size/body

decreased embryo size ( J:251884 )

• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight

embryo

decreased embryo size ( J:251884 )

• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight

absent trophoblast giant cells ( J:251884 )

• at E13.5, trophoblast giant cells are lost in the placentae of abnormally smaller embryos

absent spongiotrophoblast layer ( J:251884 )

• at E13.5, the spongiotrophoblast is lost in the placentae of abnormally smaller embryos

absent placental labyrinth ( J:251884 )

• at E13.5, the placental labyrinthine zone is lost in abnormally smaller embryos

decreased placenta weight ( J:251884 )

• at E13.5, placenta weight is decreased in abnormally smaller embryos

craniofacial

domed cranium ( J:251884 )

• ~31% of females that survive through embryonic development exhibit a dome-shaped skull at 4-5 weeks after birth

cellular

maternal effect ( J:251884 )

• homozygous females generate 4 +/- 2 pups per litter with only a 10% perinatal survival: when homozygous females are crossed with wild-type males, only 5 (exclusively -/X) of 51 newborns (10%) survive for 24 hours, i.e. much less than those generated from wild-type breeders (95%) or from heterozygous females crossed with wild-type males (87%)

• however, those 5 of 51 mice (10%) exhibiting maternal effect lethality have a body weight similar to that of wild-type controls

skeleton

domed cranium ( J:251884 )

• ~31% of females that survive through embryonic development exhibit a dome-shaped skull at 4-5 weeks after birth

Allelic Composition	Naa10^tm1.1Yzhg/Naa10⁺
Genetic Background	B6.129(FVB)-Naa10^tm1.1Yzhg/Yzhg

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naa10^tm1.1Yzhg mutation (0 available); any Naa10 mutation (10 available)

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:251884 )

• 18% of heterozygous females with a maternally inherited mutant allele die during E12.5-E14.5, likely caused by preferential inactivation of the paternal X chromosome carrying the wild-type allele in placental tissues

• however, females with a paternally inherited mutant allele are completely viable during E12.5-E14.5

growth/size/body

decreased embryo size ( J:251884 )

• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight

embryo

decreased embryo size ( J:251884 )

• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight

decreased placenta weight ( J:251884 )

• at E13.5, placenta weight is decreased in abnormally smaller embryos

reproductive system

decreased litter size ( J:251884 )

• matings between surviving heterozygous females with a maternally inherited mutant allele and wild-type males result in decreased litter size

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

mortality/aging

premature death ( J:251884 )

• males that develop hydrocephalus at 4-5 weeks after birth die within 1 week after exhibiting the symptom

• overall, 40% of males survive past 6 weeks

prenatal lethality, incomplete penetrance ( J:251884 )

• when heterozygous (-/X) female mice are crossed with wild-type (X/Y) or hemizygous males (-/Y), the birthrate of hemizygous male progeny is only 15% and 17%, respectively, versus expected 25%

embryonic lethality during organogenesis, incomplete penetrance ( J:251884 )

• 35% of hemizygous males die with developmental defects during E12.5-E14.5

growth/size/body

decreased embryo size ( J:251884 )

• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight

decreased body weight ( J:251884 )

• males that survive past 6 weeks exhibit only 80% of the body weight of wild-type controls at 8 weeks of age; body weight is only 75% of wild-type controls by 25 weeks of age

postnatal growth retardation ( J:251884 )

• surviving males are postnatally growth-retarded

embryo

decreased embryo size ( J:251884 )

• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight

absent trophoblast giant cells ( J:251884 )

• at E13.5, trophoblast giant cells are lost in the placentae of abnormally smaller embryos

absent spongiotrophoblast layer ( J:251884 )

• at E13.5, the spongiotrophoblast is lost in the placentae of abnormally smaller embryos

absent placental labyrinth ( J:251884 )

• at E13.5, the placental labyrinthine zone is lost in abnormally smaller embryos

decreased placenta weight ( J:251884 )

• at E13.5, placenta weight is decreased in abnormally smaller embryos

nervous system

intracranial hemorrhage ( J:251884 )

• hydrocephalic males exhibit meningeal hemorrhage on the dome-shaped cranium, indicating increased brain pressure

hydrocephaly ( J:251884 )

• males with a dome-shaped skull at 4-5 weeks after birth develop hydrocephalus followed by death

enlarged lateral ventricles ( J:251884 )

• hydrocephalic males exhibit enlarged lateral ventricles

dilated third ventricle ( J:251884 )

• hydrocephalic males exhibit a dilated third ventricle

craniofacial

domed cranium ( J:251884 )

• ~34% of males that survive through embryonic development exhibit a dome-shaped skull at 4-5 weeks after birth

cardiovascular system

intracranial hemorrhage ( J:251884 )

• hydrocephalic males exhibit meningeal hemorrhage on the dome-shaped cranium, indicating increased brain pressure

skeleton

domed cranium ( J:251884 )

• ~34% of males that survive through embryonic development exhibit a dome-shaped skull at 4-5 weeks after birth

reproductive system

reproductive system phenotype ( J:251884 )

N	• wild-type female mice crossed with wild-type or hemizygous male mice generate a similar litter size and perinatal survival rate of pups, suggesting that spermatogenesis is largely unaffected

Allelic Composition	Naa10^tm1.1Yzhg/Y
Genetic Background	(B6.129(FVB)-Naa10^tm1.1Yzhg/Yzhg x JF1/Ms)F1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naa10^tm1.1Yzhg mutation (0 available); any Naa10 mutation (10 available)

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

growth/size/body

decreased embryo size ( J:251884 )

• at E10.5, hybrid embryos obtained from heterozygous (-/X) female mice (congenic on C57BL/6) crossed with wild-type JF1/Ms males are smaller than wild-type controls

embryo

decreased embryo size ( J:251884 )

• at E10.5, hybrid embryos obtained from heterozygous (-/X) female mice (congenic on C57BL/6) crossed with wild-type JF1/Ms males are smaller than wild-type controls

cellular

abnormal DNA methylation ( J:251884 )

• reduced representative bisulfite sequencing (RRBS) analyses indicate global loss of DNA methylation in mouse embryonic stem cells (ESCs)

• allele-specific bisulfite sequencing shows that the paternal H19-ICR and the maternal Kcnq1ot1-DMR are hypomethylated in hybrid embryos; dot blot analysis of genomic DNA from embryos indicates a marked reduction in the global 5-methylcytosine (5mC) level

abnormal imprinting ( J:251884 )

• hybrid embryos show increased mRNA levels of both H19 and Kcnq1ot1 and reduced mRNA levels of Igf2 and Cdkn1c; at E10.5, abnormal paternal expression of H19 and Kcnq1ot1 is due to loss of silencing of the imprinted allele

• in addition to H19-Igf2 and Kcnq1ot1-Cdkn1c, dysregulation of other imprinted genes is also noted in mouse embryonic stem cells (ESCs); expression of the maternally imprinted alleles of Peg10, Peg13, Kcnq1ot1, Mest, Peg3, and Snrpn and the paternally imprinted allele of H19 is increased, while the paired imprinted genes Peg3-Zim3 and Kcnq1ot1-Ascl2 are also dysregulated

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 03/25/2025 MGI 6.24