All Phenotypes Atp7a<Mo-Tohm> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atp7a^Mo-Tohm/Atp7a⁺	B6.Cg-Atp7a^Mo-Tohm	MGI:3618244
ht2	Atp7a^Mo-Tohm/Atp7a⁺	involves: AA * C3H/He * C57BL/6 * ICR	MGI:3618241
ot3	Atp7a^Mo-Tohm/Y	B6.Cg-Atp7a^Mo-Tohm	MGI:3618242
ot4	Atp7a^Mo-Tohm/Y	involves: AA * C3H/He * C57BL/6 * ICR	MGI:3618240

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:105797 )

• Background Sensitivity: 84.2% of females die within 2 days after birth, with the rest surviving to adulthood

growth/size/body

postnatal growth retardation ( J:105797 )

• exhibit slow growth at the age of 15 days

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:105797 )

• exhibit a motor disorder at 15 days of age

cardiovascular system

abnormal aorta elastic fiber morphology ( J:105797 )

• elastin fibers of the descending aorta are fragmented

hemorrhage ( J:105797 )

• 32 of 38 female pups have hemorrhages involving the shoulder, upper extremity and head and died 2 days after birth

cellular

increased brain apoptosis ( J:105797 )

• increase in apoptosis in the brain

homeostasis/metabolism

decreased brain copper level ( J:105797 )

• copper content in the brains of 4 week old females is significantly lower

nervous system

increased brain apoptosis ( J:105797 )

• increase in apoptosis in the brain

decreased brain copper level ( J:105797 )

• copper content in the brains of 4 week old females is significantly lower

abnormal Ammon gyrus morphology ( J:105797 )

• increase in apoptosis in Ammon's horn

abnormal cerebral cortex morphology ( J:105797 )

• increase in apoptosis in the cerebral cortex, excluding the molecular layer

abnormal Purkinje cell morphology ( J:105797 )

• Purkinje cells with a small amount of cytoplasm and apoptotic bodies

abnormal cerebellar granule layer morphology ( J:105797 )

• increase in apoptosis in the granular layer of the cerebellum

pigmentation

mottled coat ( J:105797 )

integument

mottled coat ( J:105797 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:105797

Allelic Composition	Atp7a^Mo-Tohm/Atp7a⁺
Genetic Background	involves: AA * C3H/He * C57BL/6 * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-Tohm mutation (1 available); any Atp7a mutation (69 available)

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

mortality/aging

mortality/aging ( J:105797 )

N	• Background Sensitivity: females on the ICR background survive up until adulthood with fertility, unlike females on a C57BL/6 background, most of which die within 2 days after birth

pigmentation

mottled coat ( J:105797 )

integument

mottled coat ( J:105797 )

Allelic Composition	Atp7a^Mo-Tohm/Y
Genetic Background	B6.Cg-Atp7a^Mo-Tohm

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-Tohm mutation (1 available); any Atp7a mutation (69 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:105797 )

• Background Sensitivity: most males die between E10.5 and E11.5 and all are dead by E12.5, slightly earlier than on an ICR background

embryo

abnormal vitelline vasculature morphology ( J:105797 )

• exhibit hemorrhage occurring from the yolk sac vessels

abnormal visceral yolk sac morphology ( J:105797 )

• irregular attachment between the mesoderm and the endothelial cells in the yolk sac

• haphazard disruption of type I collagen fibers in the yolk sac

• cells of the yolk sac at E10.5 are irregularly shaped

abnormal vitelline vascular remodeling ( J:105797 )

• exhibit hypoplasia, arrested development, and a remodeling defect in yolk sac blood vessels

cardiovascular system

abnormal vitelline vasculature morphology ( J:105797 )

• exhibit hemorrhage occurring from the yolk sac vessels

hemorrhage ( J:105797 )

• massive hemorrhage and blood cells in the yolk sac cavity, but not the embryo proper

Allelic Composition	Atp7a^Mo-Tohm/Y
Genetic Background	involves: AA * C3H/He * C57BL/6 * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-Tohm mutation (1 available); any Atp7a mutation (69 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:105797 )

• Background Sensitivity: males die between E11.5 and E12.5, slightly later than on a C57BL/6 background

embryo

abnormal visceral yolk sac morphology ( J:105797 )

• significant 1.6-fold increase in copper content in yolk sac at E11.5

homeostasis/metabolism

increased copper level ( J:105797 )

• significant 1.6-fold increase in copper content in yolk sac at E11.5

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)
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