Phenotypes associated with this allele

• Allele Symbol: Atp2c1^tm1Ges
• Allele Name: targeted mutation 1, Gary E Shull
• Allele ID: MGI:3722875
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Atp2c1^tm1Ges/Atp2c1^tm1Ges	involves: 129X1/SvJ * Black Swiss	MGI:3723212
ht2	Atp2c1^tm1Ges/Atp2c1^+	involves: 129X1/SvJ * Black Swiss	MGI:3723214

Genotype
MGI:3723212

hm1

• Allelic Composition: Atp2c1^tm1Ges/Atp2c1^tm1Ges
• Genetic Background: involves: 129X1/SvJ * Black Swiss

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

Failure of rostral neural tube closure in Atp2c1^tm1Ges/Atp2c1^tm1Ges embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:124662 )

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

embryo

increased head mesenchyme apoptosis ( J:124662 )

• increased apoptosis of cells within the head mesenchyme particularly in the area of the trigeminal neural crest at E8.5-E10.5

embryonic growth retardation ( J:124662 )

• growth restriction occurs between E8.5-E10.5 of development

decreased embryo size ( J:124662 )

• prior to death at E10.5, embryos are smaller than wild-type controls

abnormal embryonic neuroepithelium morphology ( J:124662 )

• at E10.5 ruffles are seen in the neuroectoderm of the neural tube of some embryos

open neural tube ( J:124662 )

• embryos exhibit a failure of neural tube closure from the hindbrain rostrally

growth/size/body

increased head mesenchyme apoptosis ( J:124662 )

• increased apoptosis of cells within the head mesenchyme particularly in the area of the trigeminal neural crest at E8.5-E10.5

embryonic growth retardation ( J:124662 )

• growth restriction occurs between E8.5-E10.5 of development

decreased embryo size ( J:124662 )

• prior to death at E10.5, embryos are smaller than wild-type controls

nervous system

increased neural tube apoptosis ( J:124662 )

• increased apoptosis in neural tube at E8.5-E10.5

abnormal embryonic neuroepithelium morphology ( J:124662 )

• at E10.5 ruffles are seen in the neuroectoderm of the neural tube of some embryos

open neural tube ( J:124662 )

• embryos exhibit a failure of neural tube closure from the hindbrain rostrally

exencephaly ( J:124662 )

cellular

abnormal cell morphology ( J:124662 )

• 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

abnormal Golgi apparatus morphology ( J:124662 )

• 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

abnormal endoplasmic reticulum morphology ( J:124662 )

• the rough endoplasmic reticulum has fewer ribosomes compared to wild-type embryonic cells

increased head mesenchyme apoptosis ( J:124662 )

• increased apoptosis of cells within the head mesenchyme particularly in the area of the trigeminal neural crest at E8.5-E10.5

increased neural tube apoptosis ( J:124662 )

• increased apoptosis in neural tube at E8.5-E10.5

Genotype
MGI:3723214

ht2

• Allelic Composition: Atp2c1^tm1Ges/Atp2c1⁺
• Genetic Background: involves: 129X1/SvJ * Black Swiss

Squamous cell papillomas and carcinomas in Atp2c1^tm1Ges/Atpc1⁺ adults

neoplasm

increased esophageal papilloma incidence ( J:124662 )

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

increased skin papilloma incidence ( J:124662 )

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

increased squamous cell carcinoma incidence ( J:124662 )

• 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

increased skin papilloma incidence ( J:124662 )

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

digestive/alimentary system

increased esophageal papilloma incidence ( J:124662 )

• 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