Phenotypes Associated with This Genotype

Genotype
MGI:4940051

• Allelic Composition: Atp7a^Mo-ms/Y
• Genetic Background: Not Specified

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

behavior/neurological

tremors ( J:168658 )

♂

ataxia ( J:168658 )

♂

hindlimb paralysis ( J:168658 )

♂

homeostasis/metabolism

abnormal copper level ( J:168658 )

♂ • mice exhibit increased copper levels in the kidney but decreased copper levels in the brain and liver compared with wild-type mice

decreased brain copper level ( J:168658 )

♂

increased kidney copper level ( J:168658 )

♂

decreased liver copper level ( J:168658 )

♂

integument

diluted coat color ( J:15062 )

♂

abnormal vibrissa morphology ( J:15062 )

♂ • mice exhibit abnormal pigmentation and hair structure of the vibrissae compared with wild-type mice

curly vibrissae ( J:15062 )

♂

liver/biliary system

decreased liver copper level ( J:168658 )

♂

mortality/aging

postnatal lethality, complete penetrance ( J:15062 )

♂ • mice die between 2 and 3 weeks of age

nervous system

increased neuron apoptosis ( J:157286 )

♂ • arcuate nucleus growth hormone-releasing hormone (GHRH) neurons exhibit morphological changes associated with apoptosis unlike in wild-type mice

decreased brain copper level ( J:168658 )

♂

pigmentation

diluted coat color ( J:15062 )

♂

cellular

increased neuron apoptosis ( J:157286 )

♂ • arcuate nucleus growth hormone-releasing hormone (GHRH) neurons exhibit morphological changes associated with apoptosis unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:168658