All Phenotypes Atp7a<Mo-ml> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atp7a^Mo-ml/Atp7a⁺	C3Hf/He	MGI:5013722
ht2	Atp7a^Mo-ml/Atp7a⁺	involves: C3Hf/He	MGI:6324238
ot3	Atp7a^Mo-ml/Y	C3Hf/He	MGI:5013714
ot4	Atp7a^Mo-ml/Y	involves: C3Hf/He	MGI:6324231
ot5	Atp7a^Mo-ml/Y	involves: C3Hf/He * C57BL/6	MGI:5013723

Allelic Composition	Atp7a^Mo-ml/Atp7a⁺
Genetic Background	C3Hf/He

Find Mice

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

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

integument

variable depigmentation ( J:173226 )

• mice have white "macular" or spots

pigmentation

variable depigmentation ( J:173226 )

• mice have white "macular" or spots

Allelic Composition	Atp7a^Mo-ml/Atp7a⁺
Genetic Background	involves: C3Hf/He

Find Mice

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

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

homeostasis/metabolism

decreased brain copper level ( J:12745 )

• copper content in the cerebrum is decreased

increased intestine copper level ( J:12745 )

• copper content in the small intestine and kidney is increased

integument

curly vibrissae ( J:12745 )

• mice exhibit curly/straight whiskers

variable depigmentation ( J:12745 )

• macular fur color

nervous system

decreased brain copper level ( J:12745 )

• copper content in the cerebrum is decreased

pigmentation

variable depigmentation ( J:12745 )

• macular fur color

Allelic Composition	Atp7a^Mo-ml/Y
Genetic Background	C3Hf/He

Find Mice

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

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

mortality/aging

abnormal survival ( J:173226 )

preweaning lethality, incomplete penetrance ( J:173226 )

• 90% die by 15 days of age, none survive to weaning

pigmentation

abnormal coat/hair pigmentation ( J:173226 )

absent coat pigmentation ( J:173226 )

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

integument

abnormal coat/hair pigmentation ( J:173226 )

absent coat pigmentation ( J:173226 )

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

curly vibrissae ( J:40664 )

• noticeable by 3 days of age

behavior/neurological

ataxia ( J:40664 )

• frequent after 10 daus of age

tonic seizures ( J:40664 )

• after 10 days of age

nervous system

tonic seizures ( J:40664 )

• after 10 days of age

growth/size/body

cachexia ( J:173226 )

• by day 15 this genotype is emaciated

abnormal postnatal growth ( J:40664 )

• growth rate, as measured by weight, is reduced compared with normal littermates

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

growth/size/body

abnormal postnatal growth ( J:1132 )

• 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

absent coat pigmentation ( J:12745 )

• white fur

behavior/neurological

ataxia ( J:12745 )

• mild ataxia in 10 day old mice

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:1132 )

N	• urate oxidase activity in the liver is normal

increased intestine copper level ( J:12745 )

• copper content in the small and large intestine is increased

increased kidney copper level ( J:12745 )

decreased copper level ( J:12745 )

• copper content in the heart is decreased

decreased brain copper level ( J:12745 )

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

decreased brainstem copper level ( J:12745 )

decreased liver copper level ( J:1132 , J:12745 )

• 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)

abnormal enzyme/coenzyme activity ( 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

abnormal large intestine morphology ( J:12745 )

• large intestine weight is lower in 10 day old mice

• copper treatment increases large intestine weight

hematopoietic system

decreased spleen weight ( J:12745 )

• spleen weight is lower in 10 day old mice

• copper treatment increases spleen weight

liver/biliary system

decreased liver copper level ( J:1132 , J:12745 )

• 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

decreased spleen weight ( J:12745 )

• spleen weight is lower in 10 day old mice

• copper treatment increases spleen weight

integument

absent coat pigmentation ( J:12745 )

• white fur

curly vibrissae ( J:12745 )

nervous system

decreased brain copper level ( J:12745 )

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

decreased brainstem copper level ( J:12745 )

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

Allelic Composition	Atp7a^Mo-ml/Y
Genetic Background	involves: C3Hf/He * C57BL/6

Find Mice

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

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:173226 )

• Background Sensitivity: a mixed background can extend the life span of some mice but still none are successfully weaned

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