All Phenotypes Atp7a<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Atp7a⁺
wild type
MGI:2158238

Summary

36 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Atp7a^Mo-Tohm/Atp7a⁺	B6.Cg-Atp7a^Mo-Tohm	MGI:3618244
ht2	Atp7a^Mo-to/Atp7a⁺	B6.Cg-Atp7a^Mo-to/J	MGI:6324256
ht3	Atp7a^Mo-ml/Atp7a⁺	C3Hf/He	MGI:5013722
ht4	Atp7a^Mo-2Btlr/Atp7a⁺	C57BL/6J-Atp7a^Mo-2Btlr	MGI:3806011
ht5	Atp7a^Mo-3Btlr/Atp7a⁺	C57BL/6J-Atp7a^Mo-3Btlr	MGI:5441737
ht6	Atp7a^Mo-Btlr/Atp7a⁺	C57BL/6J-Atp7a^Mo-Btlr	MGI:3777915
ht7	Atp7a^Mo-pew3J/Atp7a⁺	C;B6-Atp7a^Mo-pew3J/GrsrJ	MGI:3630395
ht8	Atp7a^Mo-pew/Atp7a⁺	CBA/J-Atp7a^Mo-pew	MGI:3804646
ht9	Atp7a^Mo-18H/Atp7a⁺	involves: 101/H	MGI:5305023
ht10	Atp7a^Mo-12H/Atp7a⁺	involves: 101/H * C3H/HeH	MGI:2387678
ht11	Atp7a^Mo-dp/Atp7a⁺	involves: 101/H * C3H/HeH	MGI:5696613
ht12	Atp7a^Mo-11H/Atp7a⁺	involves: 101/H * C3H/HeH	MGI:2387673
ht13	Atp7a^Mo-10H/Atp7a⁺	involves: 101/H * C3H/HeH	MGI:2387669
ht14	Atp7a^Mo-Tohm/Atp7a⁺	involves: AA * C3H/He * C57BL/6 * ICR	MGI:3618241
ht15	Atp7a^Mo-8J/Atp7a⁺	involves: C3HeB/FeJ * C57BL/6J	MGI:4849928
ht16	Atp7a^Mo-ml/Atp7a⁺	involves: C3Hf/He	MGI:6324238
ht17	Atp7a^Mo-brJ/Atp7a⁺	involves: C3H/HeJ * C57BL/6J	MGI:4361580
ht18	Atp7a^Mo-blo/Atp7a⁺	involves: C57BL/6J	MGI:6324210
ht19	Atp7a^Mo-9J/Atp7a⁺	involves: C57BL/6J	MGI:4461051
ht20	Atp7a⁺/Atp7a^Mo-5J	involves: C57BL/6J * DBA/2J	MGI:5318249
ht21	Atp7a^Mo-pew2J/Atp7a⁺	involves: C57BL/6J * SJL/J	MGI:4819180
ht22	Atp7a^Mo/Atp7a⁺	Not Specified	MGI:2175712
ht23	Atp7a^Mo-N/Atp7a⁺	Not Specified	MGI:2387448
ht24	Atp7a^Mo-ca/Atp7a⁺	Not Specified	MGI:2387453
ht25	Atp7a^Mo-17H/Atp7a⁺	Not Specified	MGI:2387463
ht26	Atp7a^Mo-spot/Atp7a⁺	Not Specified	MGI:2387470
ht27	Atp7a^Mo-4R/Atp7a⁺	Not Specified	MGI:3793782
ht28	Atp7a^Mo-blo/Atp7a⁺	Not Specified	MGI:3793784
ht29	Atp7a^Mo-dp/Atp7a⁺	Not Specified	MGI:3794522
ht30	Atp7a^Mo-to/Atp7a⁺	Not Specified	MGI:3794523
ht31	Atp7a^Mo-dp2/Atp7a⁺	Not Specified	MGI:3818928
ht32	Atp7a^Mo-ms/Atp7a⁺	Not Specified	MGI:4940053
ht33	Atp7a^Mo-16H/Atp7a⁺	SWF	MGI:2387465
cn34	Atp7a^tm1.1Mjp/Atp7a⁺ Cldn6^tm1(cre)Dkwu/Cldn6⁺	involves: C57BL/6	MGI:5447643
cx35	Atp7a^Mo-brJ/Atp7a⁺ Mt1^tm1Bri/Mt1^tm1Bri Mt2^tm1Bri/Mt2^tm1Bri	involves: 129S7/SvEvBrd * C3H/HeJ	MGI:4361578
cx36	Atp7a^Mo-brJ/Atp7a⁺ Mt1^tm1Bri/Mt1^tm1Bri Mt2^tm1Bri/Mt2^tm1Bri Tg(Mt1)174Bri/0	involves: 129S7/SvEvBrd * C3H/HeJ * C57BL/6 * SJL	MGI:4361575

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-Tohm mutation (1 available); any Atp7a mutation (65 available)

♀	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

Allelic Composition	Atp7a^Mo-to/Atp7a⁺
Genetic Background	B6.Cg-Atp7a^Mo-to/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-to mutation (2 available); any Atp7a mutation (65 available)

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

homeostasis/metabolism

increased intestine copper level ( J:79328 )

• mice exhibit increased copper levels along the surface of duodenal microvilli and within pinocytotic vesicles at the bases of microvilli, with copper extensively concentrated at the apex and base of each microvillus

• numerous pinocytotic vesicles containing copper are seen within the duodenal mucosa

integument

abnormal hair shaft morphology ( J:79326 )

• hair shafts are beaded in appearance (monilethrix), twisted (pili torti) or exhibit a rough nodular appearance

• many non-pigmented hairs exhibit enlarged bitubular shafts, the tubules of the bitubular hair merge at the distal end of the shaft, and overlapping cuticle cells are sometimes seen at the site of merging

wavy vibrissae ( J:79326 )

• while whiskers are wavy, they are structurally identical to wild-type whiskers

digestive/alimentary system

increased intestine copper level ( J:79328 )

• numerous pinocytotic vesicles containing copper are seen within the duodenal mucosa

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 (65 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-2Btlr/Atp7a⁺
Genetic Background	C57BL/6J-Atp7a^Mo-2Btlr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-2Btlr mutation (0 available); any Atp7a mutation (65 available)

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

Coat color phenotypes of mutants carrying the Atp7a^Mo-Btlr, Atp7a^Mo-2Btlr, or Atp7a^Mo-3Btlr allele

pigmentation

mosaic coat color ( J:138687 , J:188598 )

• the fur of heterozygous female mice is black with brown stripes on the back, belly and face that appear not to cross the midline; the skin of newborn mice is lighter where the brown stripes will later appear, and the stripes lighten and become more pronounced as the mice age (J:138687)

(J:188598)

integument

mosaic coat color ( J:138687 , J:188598 )

(J:188598)

Allelic Composition	Atp7a^Mo-3Btlr/Atp7a⁺
Genetic Background	C57BL/6J-Atp7a^Mo-3Btlr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-3Btlr mutation (1 available); any Atp7a mutation (65 available)

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

Coat color phenotypes of mutants carrying the Atp7a^Mo-Btlr, Atp7a^Mo-2Btlr, or Atp7a^Mo-3Btlr allele

integument

integument phenotype ( J:188598 )

N	• unlike other mutations in this gene, heterozygotes do not present with variegated coat color

Allelic Composition	Atp7a^Mo-Btlr/Atp7a⁺
Genetic Background	C57BL/6J-Atp7a^Mo-Btlr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-Btlr mutation (0 available); any Atp7a mutation (65 available)

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

Coat color phenotypes of mutants carrying the Atp7a^Mo-Btlr, Atp7a^Mo-2Btlr, or Atp7a^Mo-3Btlr allele

pigmentation

mosaic coat color ( J:133115 , J:188598 )

• the dorsal, ventral and facial fur of female mice (and skin of neonatal females) heterozygous for the tigrou-like mutation appears black with brown stripes that seem not to cross the midline; the brown stripes lighten over time (J:133115)

(J:188598)

integument

mosaic coat color ( J:133115 , J:188598 )

(J:188598)

Allelic Composition	Atp7a^Mo-pew3J/Atp7a⁺
Genetic Background	C;B6-Atp7a^Mo-pew3J/GrsrJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-pew3J mutation (0 available); any Atp7a mutation (65 available)

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

Atp7a^Mo-pew3J/Atp7a⁺ females

pigmentation

abnormal coat/hair pigmentation ( J:88763 )

• variably striped brown and black when homozygous for either non-agouti or brown

integument

abnormal coat/hair pigmentation ( J:88763 )

• variably striped brown and black when homozygous for either non-agouti or brown

Allelic Composition	Atp7a^Mo-pew/Atp7a⁺
Genetic Background	CBA/J-Atp7a^Mo-pew

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-pew mutation (1 available); any Atp7a mutation (65 available)

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

pigmentation

abnormal coat/hair pigmentation ( J:23989 )

irregular coat pigmentation ( J:23989 )

• mice have a variable mosaic gray and wild-type agouti black coat due to X-inactivation

mottled coat ( J:23989 )

• mice have a mosaic agouti gray and agouti black coat

integument

abnormal coat/hair pigmentation ( J:23989 )

irregular coat pigmentation ( J:23989 )

• mice have a variable mosaic gray and wild-type agouti black coat due to X-inactivation

mottled coat ( J:23989 )

• mice have a mosaic agouti gray and agouti black coat

Allelic Composition	Atp7a^Mo-18H/Atp7a⁺
Genetic Background	involves: 101/H

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-18H mutation (0 available); any Atp7a mutation (65 available)

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

integument

mottled coat ( J:179962 )

absent vibrissae ( J:179962 )

• curly or absent at birth

curly vibrissae ( J:179962 )

• curly or absent at birth

pigmentation

mottled coat ( J:179962 )

Allelic Composition	Atp7a^Mo-12H/Atp7a⁺
Genetic Background	involves: 101/H * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-12H mutation (0 available); any Atp7a mutation (65 available)

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

behavior/neurological

impaired balance ( J:16303 )

• increasing severity with age

impaired coordination ( J:16303 )

• increasing severity with age

limbs/digits/tail

abnormal limb bone morphology ( J:16303 )

• affecting limbs and toes

skeleton

abnormal limb bone morphology ( J:16303 )

• affecting limbs and toes

pigmentation

variegated coat color ( J:16303 )

• irregular patches of dark and light colored fur; extensively variegated, with most fur being white

integument

variegated coat color ( J:16303 )

• irregular patches of dark and light colored fur; extensively variegated, with most fur being white

curly vibrissae ( J:16303 )

• noticeable at birth

Allelic Composition	Atp7a^Mo-dp/Atp7a⁺
Genetic Background	involves: 101/H * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-dp mutation (0 available); any Atp7a mutation (65 available)

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

integument

variegated coat color ( J:220263 )

curly vibrissae ( J:220263 )

• variable penetrance

nervous system

decreased brain copper level ( J:220263 )

• mean brain copper levels are about 25% lower than in wild-type females, although this is not significant due to small number of mice studied

pigmentation

variegated coat color ( J:220263 )

homeostasis/metabolism

decreased noradrenaline level ( J:220263 )

• in the brain

decreased brain copper level ( J:220263 )

• mean brain copper levels are about 25% lower than in wild-type females, although this is not significant due to small number of mice studied

abnormal enzyme/coenzyme activity ( J:220263 )

• the dihydroxyphenylacetic acid: dihydroxyphenylglycol (DOPAC:DHPG) ratio is about 3.5-fold increased and the dopamine:norepinephrine ratio is about 2.5-fold increased, indicating dopamine beta-hydroxylase (a copper-dependent enzyme) deficiency

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:220263

Allelic Composition	Atp7a^Mo-11H/Atp7a⁺
Genetic Background	involves: 101/H * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-11H mutation (0 available); any Atp7a mutation (65 available)

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:16303 )

• incomplete penetrance

pigmentation

variegated coat color ( J:16303 )

• irregular patches of dark and light colored fur; extensively variegated

integument

variegated coat color ( J:16303 )

• irregular patches of dark and light colored fur; extensively variegated

Allelic Composition	Atp7a^Mo-10H/Atp7a⁺
Genetic Background	involves: 101/H * C3H/HeH

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-10H mutation (0 available); any Atp7a mutation (65 available)

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

pigmentation

variegated coat color ( J:16303 )

• irregular patches of dark and light colored fur; low levels of gray patching

integument

variegated coat color ( J:16303 )

• irregular patches of dark and light colored fur; low levels of gray patching

Allelic Composition	Atp7a^Mo-Tohm/Atp7a⁺
Genetic Background	involves: AA * C3H/He * C57BL/6 * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-Tohm mutation (1 available); any Atp7a mutation (65 available)

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

mortality/aging

mortality/aging ( J:105797 )

N	• Background Sensitivity: females on the ICR background survive up until adulthood with fertility, unlike females on a C57BL/6 background, most of which die within 2 days after birth

pigmentation

mottled coat ( J:105797 )

integument

mottled coat ( J:105797 )

Allelic Composition	Atp7a^Mo-8J/Atp7a⁺
Genetic Background	involves: C3HeB/FeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-8J mutation (1 available); any Atp7a mutation (65 available)

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

pigmentation

abnormal coat/hair pigmentation ( J:16313 )

diluted coat color ( J:16313 )

• mutant areas of the coat are diluted compared with normal pigmentation, appearing gray or white

irregular coat pigmentation ( J:16313 )

• due to X-inactivation

mosaic coat color ( J:16313 )

• the coat has areas of normal and diluted pigmentation depending on allele inactivation

behavior/neurological

hindlimb paralysis ( J:16313 )

• coincident in females with a significant proportion of coat being of mutant, diluted pigmentation

integument

abnormal coat/hair pigmentation ( J:16313 )

diluted coat color ( J:16313 )

• mutant areas of the coat are diluted compared with normal pigmentation, appearing gray or white

irregular coat pigmentation ( J:16313 )

• due to X-inactivation

mosaic coat color ( J:16313 )

• the coat has areas of normal and diluted pigmentation depending on allele inactivation

wavy vibrissae ( J:16313 )

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 (65 available)

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

homeostasis/metabolism

increased intestine copper level ( J:12745 )

• copper content in the small intestine and kidney is increased

decreased brain copper level ( J:12745 )

• copper content in the cerebrum is decreased

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

digestive/alimentary system

increased intestine copper level ( J:12745 )

• copper content in the small intestine and kidney is increased

Allelic Composition	Atp7a^Mo-brJ/Atp7a⁺
Genetic Background	involves: C3H/HeJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-brJ mutation (0 available); any Atp7a mutation (65 available)

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

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:33276 )

N	• mice exhibit normal copper levels

Allelic Composition	Atp7a^Mo-blo/Atp7a⁺
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-blo mutation (3 available); any Atp7a mutation (65 available)

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

homeostasis/metabolism

abnormal ion homeostasis ( J:36268 )

• mice show a decrease in cadmium content in the skin and connective tissue compared to wild-type mice following injection of isotope-labeled cadmium

• however, levels of cadmium in organs such as kidney, liver, and lung are similar to wild-type mice and zinc levels are normal in these organs and in skin and connective tissue

abnormal copper homeostasis ( J:36268 )

• mice show an increase in copper content in the kidney, skin, and connective tissues, with a smaller increase in lungs but no change in duodenal levels compared to wild-type mice following injection of isotope-labeled copper

• mice show a decrease in copper accumulation in the liver and a small decrease in brain copper content

decreased brain copper level ( J:36268 )

• mice show a small decrease in brain copper content compared to wild-type mice following injection of isotope-labeled copper

increased kidney copper level ( J:36268 )

• mice show an increase in accumulation of copper in the kidney compared to wild-type mice following injection of isotope-labeled copper

decreased liver copper level ( J:36268 )

• mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

liver/biliary system

decreased liver copper level ( J:36268 )

• mice show a decrease in copper accumulation in the liver compared to wild-type mice following injection of isotope-labeled copper

nervous system

decreased brain copper level ( J:36268 )

• mice show a small decrease in brain copper content compared to wild-type mice following injection of isotope-labeled copper

renal/urinary system

increased kidney copper level ( J:36268 )

• mice show an increase in accumulation of copper in the kidney compared to wild-type mice following injection of isotope-labeled copper

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:36268

Allelic Composition	Atp7a^Mo-9J/Atp7a⁺
Genetic Background	involves: C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-9J mutation (0 available); any Atp7a mutation (65 available)

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

pigmentation

abnormal coat/hair pigmentation ( J:51010 )

mottled coat ( J:51010 )

• on this genetic background juxtaposed black and gray areas

integument

abnormal coat/hair pigmentation ( J:51010 )

mottled coat ( J:51010 )

• on this genetic background juxtaposed black and gray areas

curly vibrissae ( J:51010 )

Allelic Composition	Atp7a⁺/Atp7a^Mo-5J
Genetic Background	involves: C57BL/6J * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-5J mutation (0 available); any Atp7a mutation (65 available)

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

integument

abnormal coat appearance ( J:78379 )

• due to random inactivation of the normal coat color and Atp7a loci this genotype is mosaic for non-agouti brown and grey

mosaic coat color ( J:78379 )

pigmentation

mosaic coat color ( J:78379 )

Allelic Composition	Atp7a^Mo-pew2J/Atp7a⁺
Genetic Background	involves: C57BL/6J * SJL/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-pew2J mutation (1 available); any Atp7a mutation (65 available)

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

pigmentation

abnormal coat/hair pigmentation ( J:16313 )

irregular coat pigmentation ( J:16313 )

• mice have a variable mosaic gray and wild-type coat pigmentation due to X-inactivation

mottled coat ( J:16313 )

• mice have a mosaic agouti gray and agouti black coat

integument

abnormal coat/hair pigmentation ( J:16313 )

irregular coat pigmentation ( J:16313 )

• mice have a variable mosaic gray and wild-type coat pigmentation due to X-inactivation

mottled coat ( J:16313 )

• mice have a mosaic agouti gray and agouti black coat

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo mutation (0 available); any Atp7a mutation (65 available)

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:13041 )

• some survive post weaning but most die before 2 weeks of age

prenatal lethality, incomplete penetrance ( J:13041 )

• partial pre-natal lethality

reproductive system

decreased litter size ( J:13041 )

• litter size is about 25% smaller than in controls

pigmentation

abnormal coat/hair pigmentation ( J:249 , J:13041 )

(J:249)

• irregular patches of full colored and very lightly colored fur over the whole coat (J:13041)

• most female heterozygotes have mottled coats, due to the Lyon effect, inactivation of one or the other of the X chromosomes; the mutant gene is active in the light patches, the wild-type gene in the dark (J:13041)

integument

abnormal coat/hair pigmentation ( J:249 , J:13041 )

(J:249)

• irregular patches of full colored and very lightly colored fur over the whole coat (J:13041)

curly vibrissae ( J:249 )

• curling of vibrissae although the hairs of the coat are not noticeably waved

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Menkes disease		DOID:1838	OMIM:309400	J:249

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-N mutation (0 available); any Atp7a mutation (65 available)

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

pigmentation

variegated coat color ( J:14901 )

• irregular patches of dark and light colored fur; highly variable

integument

variegated coat color ( J:14901 )

• irregular patches of dark and light colored fur; highly variable

curly vibrissae ( J:14901 )

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-ca mutation (0 available); any Atp7a mutation (65 available)

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

integument

curly vibrissae ( J:69983 )

• exhibited by heterozygous female mice

Allelic Composition	Atp7a^Mo-17H/Atp7a⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-17H mutation (0 available); any Atp7a mutation (65 available)

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

pigmentation

variegated coat color ( J:69983 )

• irregular patches of dark and light colored fur; highly variable

integument

variegated coat color ( J:69983 )

• irregular patches of dark and light colored fur; highly variable

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-spot mutation (0 available); any Atp7a mutation (65 available)

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

pigmentation

variegated coat color ( J:69983 )

• irregular patches of dark and light colored fur; highly variable

integument

variegated coat color ( J:69983 )

• irregular patches of dark and light colored fur; highly variable

Allelic Composition	Atp7a^Mo-4R/Atp7a⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-4R mutation (1 available); any Atp7a mutation (65 available)

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

pigmentation

mottled coat ( J:13383 )

• females have mottled coat color

integument

mottled coat ( J:13383 )

• females have mottled coat color

kinked vibrissae ( J:13383 )

• heterozygotes have kinked whiskers

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-blo mutation (3 available); any Atp7a mutation (65 available)

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

growth/size/body

decreased body size ( J:13383 )

• usually smaller than wild-type

cachexia ( J:5516 )

• prior to death

pigmentation

diluted coat color ( J:13383 )

• females have irregular patches of dilute-color (pale) fur; expression of dilution is poor in some up to weaning age, but is complete in adults

limbs/digits/tail

abnormal hindlimb morphology ( J:13383 )

• occasionally hindlimbs are deformed

reproductive system

reproductive system phenotype ( J:13383 )

N	• viability and fertility are normal

behavior/neurological

lethargy ( J:5516 )

• prior to death

hunched posture ( J:5516 )

cardiovascular system

abnormal aorta morphology ( J:5516 )

• kink in distal part of descending aorta is commonly observed; in some animals, seen at 15 days of age

abnormal aorta elastic fiber morphology ( J:5516 )

• at 21 days of age, degenerative changes are seen in elastic fibers of tunica media; lesions include irregular fiber thickness, vacuolation, and fragmentation (grade II lesions)

decreased aorta elastin content ( J:5516 )

• in grades II-IV lesions, aorta elastic fiber fibers show increasing vacuolation and fragmentation; in grade V lesions elastic fibers are absent

dilated aorta ( J:5516 )

• uniform dilatation of aorta to level of superior mesenteric artery is frequently observed

aortic aneurysm ( J:5397 , J:5516 )

• 32% of mutants display aortic aneurysms and 5% show S-shaped lesions (lesions/aneurysms involve the thoracic and abdominal aorta and its branches) (J:5397)

• one or more spontaneous aneurysms can be identified; majority are fusiform or saccular, most commonly on the aortic arch or proximal part of descending aorta (J:5516)

aneurysm ( J:5516 )

• aneurysms may also occur at level of diaphragmatic hiatus

hemothorax ( J:5516 )

• at time of death, many animals exhibit bilateral hemothorax

hemoperitoneum ( J:5516 )

• seen in several pregnant females

respiratory system

hemothorax ( J:5516 )

• at time of death, many animals exhibit bilateral hemothorax

integument

diluted coat color ( J:13383 )

• females have irregular patches of dilute-color (pale) fur; expression of dilution is poor in some up to weaning age, but is complete in adults

coarse hair ( J:5516 )

• mutants have thin rough coats

curly vibrissae ( J:13383 )

• whiskers are curly at birth but straighten by weaning age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
aortic aneurysm		DOID:3627		J:5516

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-dp mutation (0 available); any Atp7a mutation (65 available)

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

cardiovascular system

aortic aneurysm ( J:5397 )

• 4% of mutants display aortic aneurysms and 6% show S-shaped lesions (lesions/aneurysms involve the thoracic and abdominal aorta and its branches)

integument

variegated coat color ( J:12943 )

curly vibrissae ( J:12943 )

• variable curling of the vibrissae

limbs/digits/tail

clubfoot ( J:12943 )

• some females show clubbing of one or both fore feet at birth or at weaning

pigmentation

variegated coat color ( J:12943 )

skeleton

abnormal skeleton morphology ( J:12943 )

• some females develop calcified lumps in the region of the periosteum, especially on the vertebral column, particularly the thoracic and lumber regions with age

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-to mutation (2 available); any Atp7a mutation (65 available)

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

cardiovascular system

aortic aneurysm ( J:5397 )

• 25% of females display aortic aneurysms and 17% show S-shaped lesions (lesions/aneurysms involve the thoracic and abdominal aorta and its branches)

integument

variegated coat color ( J:24988 )

• varicolored coat consisting of black, brown, yellowish, grey, and almost white

abnormal hair texture ( J:24988 )

• mice exhibit a silkier texture of the hair

wavy vibrissae ( J:24988 )

• slight waving of the vibrissae

limbs/digits/tail

abnormal limb bone morphology ( J:24988 )

• some females exhibit skeletal abnormalities in the fore and hind limbs

pigmentation

variegated coat color ( J:24988 )

• varicolored coat consisting of black, brown, yellowish, grey, and almost white

skeleton

abnormal limb bone morphology ( J:24988 )

• some females exhibit skeletal abnormalities in the fore and hind limbs

Allelic Composition	Atp7a^Mo-dp2/Atp7a⁺
Genetic Background	Not Specified

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-dp2 mutation (0 available); any Atp7a mutation (65 available)

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

mortality/aging

postnatal lethality ( J:13104 )

• animals with impaired limb coordination die at around 2 weeks of age

behavior/neurological

impaired limb coordination ( J:13104 )

• in some animals

• starts as a tremor when mice are a few days old

• quickly becomes worse over several days until all coordination is lost

skeleton

abnormal skeleton morphology ( J:13104 )

• calcified lumps develop in some mice at a few months of age

• frequency of calcifications increases with age

calcified tendon ( J:13104 )

• occasional appearance of calcified lumps in tendons

abnormal vertebrae morphology ( J:13104 )

• calcified lumps occasionally found attached to vertebrae

limbs/digits/tail

abnormal autopod morphology ( J:13104 )

• calcified lumps occasionally found attached to the bones of the feet

muscle

calcified tendon ( J:13104 )

• occasional appearance of calcified lumps in tendons

pigmentation

abnormal coat/hair pigmentation ( J:13104 )

• colors of individual hairs within patches are variable

abnormal hair shaft melanin granule morphology ( J:13104 )

• pigment cells within hairs have variable pigment levels, from normal to almost no pigment

mottled coat ( J:13104 )

• patches of full color and patches of white on a light colored background

• patches seldom cross the midline

integument

abnormal coat/hair pigmentation ( J:13104 )

• colors of individual hairs within patches are variable

abnormal hair shaft melanin granule morphology ( J:13104 )

• pigment cells within hairs have variable pigment levels, from normal to almost no pigment

mottled coat ( J:13104 )

• patches of full color and patches of white on a light colored background

• patches seldom cross the midline

abnormal hair texture ( J:13104 )

• sometimes of a finer texture than normal

waved hair ( J:13104 )

• sometimes

curly vibrissae ( J:13104 )

• always

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 (65 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-16H/Atp7a⁺
Genetic Background	SWF

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-16H mutation (0 available); any Atp7a mutation (65 available)

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

pigmentation

variegated coat color ( J:69983 )

• irregular patches of dark and light colored fur; highly variable

integument

variegated coat color ( J:69983 )

• irregular patches of dark and light colored fur; highly variable

Allelic Composition	Atp7a^tm1.1Mjp/Atp7a⁺ Cldn6^tm1(cre)Dkwu/Cldn6⁺
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^tm1.1Mjp mutation (0 available); any Atp7a mutation (65 available)
Cldn6^tm1(cre)Dkwu mutation (1 available); any Cldn6 mutation (20 available)

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

Patches of hypopigmentation in coats of Atp7a^tm1.1Mjp/Atp7a⁺ Cldn6^tm1(cre)Dkwu/Cldn6⁺ females

mortality/aging

postnatal lethality, incomplete penetrance ( J:189931 )

• only two mice survive beyond the second day after birth

prenatal lethality, incomplete penetrance ( J:189931 )

• fewer than expected mice are born

integument

curly vibrissae ( J:189931 )

pigmentation

hypopigmentation ( J:189931 )

• mosaic pattern of hypopigmented coat coloring in surviving mice

Allelic Composition	Atp7a^Mo-brJ/Atp7a⁺ Mt1^tm1Bri/Mt1^tm1Bri Mt2^tm1Bri/Mt2^tm1Bri
Genetic Background	involves: 129S7/SvEvBrd * C3H/HeJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Atp7a^Mo-brJ mutation (0 available); any Atp7a mutation (65 available)
Mt1^tm1Bri mutation (1 available); any Mt1 mutation (47 available)
Mt2^tm1Bri mutation (1 available); any Mt2 mutation (11 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:33276 )

• no mice are recovered at E11

cellular

increased sensitivity to induced cell death ( J:33276 )

• cells from E11 embryos exhibit increased cell death when cultured with copper compared with similarly treated heterozygous cells

growth/size/body

decreased body size ( J:33276 )

• the one surviving mouse was runted

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:33276 )

N	• the one recovered mouse had normal copper levels in the intestine and liver

Allelic Composition	Atp7a^Mo-brJ/Atp7a⁺ Mt1^tm1Bri/Mt1^tm1Bri Mt2^tm1Bri/Mt2^tm1Bri Tg(Mt1)174Bri/0
Genetic Background	involves: 129S7/SvEvBrd * C3H/HeJ * C57BL/6 * SJL

Find Mice

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

normal phenotype

no abnormal phenotype detected ( J:33276 )

• mice are phenotypically normal

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