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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Naa10tm1.1Yzhg
targeted mutation 1.1, Yi Zhang
MGI:6315272
Summary 4 genotypes


Genotype
MGI:8174722
hm1
Allelic
Composition
Naa10tm1.1Yzhg/Naa10tm1.1Yzhg
Genetic
Background
B6.129(FVB)-Naa10tm1.1Yzhg/Yzhg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naa10tm1.1Yzhg mutation (0 available); any Naa10 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• when heterozygous (-/X) female mice are crossed with hemizygous male (-/Y) mice, the birthrate of homozygous female progeny is only 12% versus expected 25%
• 27% of homozygous females die with developmental defects during E12.5-E14.5

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

embryo
• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight
• at E13.5, trophoblast giant cells are lost in the placentae of abnormally smaller embryos
• at E13.5, the spongiotrophoblast is lost in the placentae of abnormally smaller embryos
• at E13.5, the placental labyrinthine zone is lost in abnormally smaller embryos
• at E13.5, placenta weight is decreased in abnormally smaller embryos

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

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




Genotype
MGI:8174724
ht2
Allelic
Composition
Naa10tm1.1Yzhg/Naa10+
Genetic
Background
B6.129(FVB)-Naa10tm1.1Yzhg/Yzhg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naa10tm1.1Yzhg mutation (0 available); any Naa10 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight

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

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




Genotype
MGI:8174717
ot3
Allelic
Composition
Naa10tm1.1Yzhg/Y
Genetic
Background
B6.129(FVB)-Naa10tm1.1Yzhg/Yzhg
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naa10tm1.1Yzhg mutation (0 available); any Naa10 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• 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%
• 35% of hemizygous males die with developmental defects during E12.5-E14.5

growth/size/body
• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight
• 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
• surviving males are postnatally growth-retarded

embryo
• at E13.5, embryo size is abnormally decreased relative to wild-type controls; embryo size is highly correlated with placental weight
• at E13.5, trophoblast giant cells are lost in the placentae of abnormally smaller embryos
• at E13.5, the spongiotrophoblast is lost in the placentae of abnormally smaller embryos
• at E13.5, the placental labyrinthine zone is lost in abnormally smaller embryos
• at E13.5, placenta weight is decreased in abnormally smaller embryos

nervous system
• hydrocephalic males exhibit meningeal hemorrhage on the dome-shaped cranium, indicating increased brain pressure
• males with a dome-shaped skull at 4-5 weeks after birth develop hydrocephalus followed by death
• hydrocephalic males exhibit enlarged lateral ventricles
• hydrocephalic males exhibit a dilated third ventricle

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

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

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

reproductive system
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




Genotype
MGI:8174727
ot4
Allelic
Composition
Naa10tm1.1Yzhg/Y
Genetic
Background
(B6.129(FVB)-Naa10tm1.1Yzhg/Yzhg x JF1/Ms)F1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Naa10tm1.1Yzhg mutation (0 available); any Naa10 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• 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
• 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
• 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
• 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





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last database update
03/25/2025
MGI 6.24
The Jackson Laboratory