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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Atp7aMo-ml
mottled macular
MGI:1856466
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Atp7aMo-ml/Atp7a+ C3Hf/He MGI:5013722
ht2
Atp7aMo-ml/Atp7a+ involves: C3Hf/He MGI:6324238
ot3
Atp7aMo-ml/Y C3Hf/He MGI:5013714
ot4
Atp7aMo-ml/Y involves: C3Hf/He MGI:6324231
ot5
Atp7aMo-ml/Y involves: C3Hf/He * C57BL/6 MGI:5013723


Genotype
MGI:5013722
ht1
Allelic
Composition
Atp7aMo-ml/Atp7a+
Genetic
Background
C3Hf/He
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-ml mutation (1 available); any Atp7a mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
integument
• mice have white "macular" or spots

pigmentation
• mice have white "macular" or spots




Genotype
MGI:6324238
ht2
Allelic
Composition
Atp7aMo-ml/Atp7a+
Genetic
Background
involves: C3Hf/He
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-ml mutation (1 available); any Atp7a mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• copper content in the cerebrum is decreased
• copper content in the small intestine and kidney is increased

integument
• mice exhibit curly/straight whiskers
• macular fur color

nervous system
• copper content in the cerebrum is decreased

pigmentation
• macular fur color




Genotype
MGI:5013714
ot3
Allelic
Composition
Atp7aMo-ml/Y
Genetic
Background
C3Hf/He
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-ml mutation (1 available); any Atp7a mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 90% die by 15 days of age, none survive to weaning

pigmentation
• the coat is white and contrasts strikingly with (normal) black eyes

integument
• the coat is white and contrasts strikingly with (normal) black eyes
• noticeable by 3 days of age

behavior/neurological
• frequent after 10 daus of age
• after 10 days of age

nervous system
• after 10 days of age

growth/size/body
• by day 15 this genotype is emaciated
• growth rate, as measured by weight, is reduced compared with normal littermates




Genotype
MGI:6324231
ot4
Allelic
Composition
Atp7aMo-ml/Y
Genetic
Background
involves: C3Hf/He
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-ml mutation (1 available); any Atp7a mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• males exhibit decreased body weight at 10 and 14 days of age but not at 10 days indicating decreased postnatal growth
• treatment with copper does not affect body weight

pigmentation

behavior/neurological
• mild ataxia in 10 day old mice

homeostasis/metabolism
N
• urate oxidase activity in the liver is normal
• copper content in the small and large intestine is increased
• copper content in the heart is decreased
• copper content in the cerebrum, cerebellum and brain stem is decreased
• liver copper content is decreased in 7 to 14 day old males (J:1132)
• treatment with copper increases liver copper content (J:1132)
(J:12745)
• cytochrome c oxidase activity in the brain (cerebrum, cerebellum, brain stem) and heart is decreased
• however, cytochrome c oxidase activity in the lung, spleen, thymus, intestine, kidney and liver is not affected

digestive/alimentary system
• large intestine weight is lower in 10 day old mice
• copper treatment increases large intestine weight

hematopoietic system
• spleen weight is lower in 10 day old mice
• copper treatment increases spleen weight

liver/biliary system
• liver copper content is decreased in 7 to 14 day old males (J:1132)
• treatment with copper increases liver copper content (J:1132)
(J:12745)

immune system
• spleen weight is lower in 10 day old mice
• copper treatment increases spleen weight

integument

nervous system
• copper content in the cerebrum, cerebellum and brain stem is decreased

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Menkes disease DOID:1838 OMIM:309400
J:1132 , J:12745




Genotype
MGI:5013723
ot5
Allelic
Composition
Atp7aMo-ml/Y
Genetic
Background
involves: C3Hf/He * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7aMo-ml mutation (1 available); any Atp7a mutation (69 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• Background Sensitivity: a mixed background can extend the life span of some mice but still none are successfully weaned





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last database update
10/22/2024
MGI 6.24
The Jackson Laboratory