About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nat2tm1Esim
targeted mutation 1, Edith Sim
MGI:2675637
Summary 7 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nat2tm1Esim/Nat2tm1Esim 129P2/OlaHsd-Nat2tm1Esim MGI:2675902
hm2
Nat2tm1Esim/Nat2tm1Esim A.129P2-Nat2tm1Esim MGI:3715346
hm3
Nat2tm1Esim/Nat2tm1Esim B6.129P2-Nat2tm1Esim MGI:3771562
hm4
Nat2tm1Esim/Nat2tm1Esim involves: 129P2/OlaHsd * A/J MGI:2675905
hm5
Nat2tm1Esim/Nat2tm1Esim involves: 129P2/OlaHsd * C57BL/6 MGI:2675903
ht6
Nat2tm1Esim/Nat2+ A.129P2-Nat2tm1Esim MGI:3771567
ht7
Nat2tm1Esim/Nat2+ B6.129P2-Nat2tm1Esim MGI:3771563


Genotype
MGI:2675902
hm1
Allelic
Composition
Nat2tm1Esim/Nat2tm1Esim
Genetic
Background
129P2/OlaHsd-Nat2tm1Esim
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nat2tm1Esim mutation (4 available); any Nat2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype




Genotype
MGI:3715346
hm2
Allelic
Composition
Nat2tm1Esim/Nat2tm1Esim
Genetic
Background
A.129P2-Nat2tm1Esim
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nat2tm1Esim mutation (4 available); any Nat2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• ocular defects are observed in 0.8% of homozygotes derived from intercrosses of homozygotes and in 3.3% of offspring derived by intercrossing heterozygous mutants between generations N8 and N12, but not in earlier generations

reproductive system
• a gender-dependent effect is observed on offspring survival; homozygous litters exhibit a gender bias with a 1.5 fold excess of males that differs from the predicted 1:1 ratio; a reversed gender bias is seen in offspring from intercross matings in which both parents are heterozygous, with a ratio of males to females of 0.7:1




Genotype
MGI:3771562
hm3
Allelic
Composition
Nat2tm1Esim/Nat2tm1Esim
Genetic
Background
B6.129P2-Nat2tm1Esim
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nat2tm1Esim mutation (4 available); any Nat2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• abnormal folate metabolism as indicated by a reduction in urinary levels of acetylated folate metabolite para-aminobenzoylglutamate




Genotype
MGI:2675905
hm4
Allelic
Composition
Nat2tm1Esim/Nat2tm1Esim
Genetic
Background
involves: 129P2/OlaHsd * A/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nat2tm1Esim mutation (4 available); any Nat2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• exhibit a trend towards a greater number of females among live-born offspring of intercrosses (heterozygous males x heterozygous females), indicating a sexual bias in allelic inheritance




Genotype
MGI:2675903
hm5
Allelic
Composition
Nat2tm1Esim/Nat2tm1Esim
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nat2tm1Esim mutation (4 available); any Nat2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
reproductive system
• exhibit a trend towards a greater number of females among live-born offspring of intercrosses (heterozygous males x heterozygous females), indicating a sexual bias in allelic inheritance




Genotype
MGI:3771567
ht6
Allelic
Composition
Nat2tm1Esim/Nat2+
Genetic
Background
A.129P2-Nat2tm1Esim
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nat2tm1Esim mutation (4 available); any Nat2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Overview of ocular phenotype of Nat2tm1Esim/Nat2+ mice

vision/eye
• ocular defects are observed in 5.5% of A/J offspring derived by backcrossing of wild-type mice to heterozygous mutants
• mutants with microphthalmia exhibit complete absence of the lens tissue
• cataract analysis shows a failure of the lens to separate from the cornea, plaques within the lens tissue, and disorganized lens tissue in the anterior subcapsular region
• microphthalmic eyes show complete absence of lens tissue with an intact cornea but globe filled with folded retina
• most severe cares show no evidence of an eye




Genotype
MGI:3771563
ht7
Allelic
Composition
Nat2tm1Esim/Nat2+
Genetic
Background
B6.129P2-Nat2tm1Esim
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nat2tm1Esim mutation (4 available); any Nat2 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• incidence of incomplete neural tube closure amongst heterozygous offspring derived by crossing wild-type and homozygous mice is 14%; most often the position of the defect is caudal to the hindbrain, at the cervical level

vision/eye
• unilateral or bilateral anophthalmia is observed in 1% of backcross and intercross offspring from N8 to N12

embryo
• incidence of incomplete neural tube closure amongst heterozygous offspring derived by crossing wild-type and homozygous mice is 14%; most often the position of the defect is caudal to the hindbrain, at the cervical level





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
04/30/2024
MGI 6.23
The Jackson Laboratory