All Phenotypes Atp7a<Mo-ms> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Atp7a^Mo-ms
mottled mosaic
MGI:1856100

Summary

4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atp7a^Mo-ms/Atp7a⁺	Not Specified	MGI:4940053
ot2	Atp7a^Mo-ms/Y	involves: CBA	MGI:4940052
ot3	Atp7a^Mo-ms/Y	involves: CBA/Kw	MGI:4940054
ot4	Atp7a^Mo-ms/Y	Not Specified	MGI:4940051

Allelic Composition	Atp7a^Mo-ms/Atp7a⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-ms mutation (0 available); any Atp7a mutation (69 available)

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

integument

abnormal coat/ hair morphology ( J:15062 )

• mice exhibit mutant hair arranged in an irregular pattern of transverse bars compared with wild-type mice

• however, coat color is normal

curly vibrissae ( J:15062 )

• postnatally, but straightened in adults

Allelic Composition	Atp7a^Mo-ms/Y
Genetic Background	involves: CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-ms mutation (0 available); any Atp7a mutation (69 available)

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

homeostasis/metabolism

increased kidney copper level ( J:80157 )

renal/urinary system

decreased renal glomerulus number ( J:80157 )

decreased kidney weight ( J:80157 )

abnormal renal tubule morphology ( J:80157 )

Allelic Composition	Atp7a^Mo-ms/Y
Genetic Background	involves: CBA/Kw

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-ms mutation (0 available); any Atp7a mutation (69 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:14875 )

• average life span is 16 days

• life span is influenced by genetic background of fostering dam

homeostasis/metabolism

decreased circulating ceruloplasmin level ( J:14875 )

• mice exhibit reduced ceruloplasmin serum levels

abnormal copper homeostasis ( J:14875 )

• mice exhibit poor copper absorption from the intestine compared with wild-type mice

• mice exhibit reduced ceruloplasmin serum levels and low o-diphenol oxidase activity in the eyeball compared with wild-type mice

decreased brain copper level ( J:14875 )

• copper levels in the brain are less than in wild-type mice

increased intestine copper level ( J:14875 )

decreased liver copper level ( J:14875 )

integument

abnormal awl hair morphology ( J:14875 )

abnormal zigzag hair morphology ( J:14875 )

curly vibrissae ( J:14875 )

behavior/neurological

hindlimb paresis ( J:14875 )

• paresis in the hindlimb beginning at day 8

growth/size/body

weight loss ( J:14875 )

• at P8

liver/biliary system

decreased liver copper level ( J:14875 )

nervous system

decreased brain copper level ( J:14875 )

• copper levels in the brain are less than in wild-type mice

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-ms mutation (0 available); any Atp7a mutation (69 available)

♀	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

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