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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atp2c1tm1Ges
targeted mutation 1, Gary E Shull
MGI:3722875
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Atp2c1tm1Ges/Atp2c1tm1Ges involves: 129X1/SvJ * Black Swiss MGI:3723212
ht2
Atp2c1tm1Ges/Atp2c1+ involves: 129X1/SvJ * Black Swiss MGI:3723214


Genotype
MGI:3723212
hm1
Allelic
Composition
Atp2c1tm1Ges/Atp2c1tm1Ges
Genetic
Background
involves: 129X1/SvJ * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp2c1tm1Ges mutation (1 available); any Atp2c1 mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Failure of rostral neural tube closure in Atp2c1tm1Ges/Atp2c1tm1Ges embryos

mortality/aging
• embryos die between E10.5 and E11.5 due to widespread failure of cell viability

embryo
• increased apoptosis of cells within the head mesenchyme particularly in the area of the trigeminal neural crest at E8.5-E10.5
• growth restriction occurs between E8.5-E10.5 of development
• prior to death at E10.5, embryos are smaller than wild-type controls
• at E10.5 ruffles are seen in the neuroectoderm of the neural tube of some embryos
• embryos exhibit a failure of neural tube closure from the hindbrain rostrally

growth/size/body
• increased apoptosis of cells within the head mesenchyme particularly in the area of the trigeminal neural crest at E8.5-E10.5
• growth restriction occurs between E8.5-E10.5 of development
• prior to death at E10.5, embryos are smaller than wild-type controls

nervous system
• increased apoptosis in neural tube at E8.5-E10.5
• at E10.5 ruffles are seen in the neuroectoderm of the neural tube of some embryos
• embryos exhibit a failure of neural tube closure from the hindbrain rostrally

cellular
• a sharp increase is seen in the number of cells with 3 or more lipid droplets in the cytoplasm particularly in the mesenchyme and cardiovascular tissues at E8.5 - E10.5
• embryonic cells display a 4-fold increase in Golgi body number and the Golgi bodies have dilated membranes and an increase in smooth and dense vesicles
• the rough endoplasmic reticulum has fewer ribosomes compared to wild-type embryonic cells
• increased apoptosis of cells within the head mesenchyme particularly in the area of the trigeminal neural crest at E8.5-E10.5
• increased apoptosis in neural tube at E8.5-E10.5




Genotype
MGI:3723214
ht2
Allelic
Composition
Atp2c1tm1Ges/Atp2c1+
Genetic
Background
involves: 129X1/SvJ * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp2c1tm1Ges mutation (1 available); any Atp2c1 mutation (74 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Squamous cell papillomas and carcinomas in Atp2c1tm1Ges/Atpc1+ adults

neoplasm
• of the 6 mice with squamous cell carcinomas two had an esophageal papilloma at 22 months of age
• of the 6 mice with squamous cell carcinomas one had a skin papilloma at 2 years of age
• 6 of 26 mice (over 20 months of age) displayed squamous cell tumors of keratinized epthelial cells compared to 0 wild-type mice at the same age
• 3 of the 6 mice with squamous cell carcinomas had carcinomas of the skin at 20 - 22 months of age

integument
• of the 6 mice with squamous cell carcinomas one had a skin papilloma at 2 years of age

digestive/alimentary system
• of the 6 mice with squamous cell carcinomas two had an esophageal papilloma at 22 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT Hailey-Hailey disease DOID:0050429 OMIM:169600
J:124662





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory