Phenotypes Associated with This Genotype

Genotype
MGI:3618244

• Allelic Composition: Atp7a^Mo-Tohm/Atp7a⁺
• Genetic Background: B6.Cg-Atp7a^Mo-Tohm

• ♀: 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