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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Atp7a
ATPase, copper transporting, alpha polypeptide
MGI:99400
156 phenotypes from 42 alleles in 30 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Atp7a+/Atp7aMo-5J
involves: C57BL/6J * DBA/2J 		abnormal coat appearance J:78379
mosaic coat color J:78379
Atp7aem1(IMPC)J/Y
C57BL/6NJ-Atp7aem1(IMPC)J/Mmjax 		abnormal coat/ hair morphology J:211773
abnormal coat/hair pigmentation J:211773
abnormal vocalization J:211773
Atp7aem1(IMPC)J/Atp7aem1(IMPC)J
C57BL/6NJ-Atp7aem1(IMPC)J/Mmjax 		abnormal coat/hair pigmentation J:211773
abnormal vocalization J:211773
Atp7aMo-1Pub/Y
involves: 101 * C3H * T STOCK 		prenatal lethality, complete penetrance J:38977
Atp7aMo-2Acre/Y
involves: 101 * C3H * T STOCK 		postnatal lethality, complete penetrance J:38977
Atp7aMo-2Btlr/Atp7a+
C57BL/6J-Atp7aMo-2Btlr 		mosaic coat color J:138687, J:188598
Atp7aMo-2Btlr/Y
C57BL/6J-Atp7aMo-2Btlr 		absent coat pigmentation J:138687, J:188598
normal pigmentation phenotype J:138687
postnatal lethality, complete penetrance J:138687, J:188598
prenatal lethality, incomplete penetrance J:138687, J:188598
Atp7aMo-3Btlr/Y
C57BL/6J-Atp7aMo-3Btlr 		abnormal coat/hair pigmentation J:153280, J:188598
decreased brain copper level J:188598
decreased susceptibility to prion infection J:188598
Atp7aMo-3Btlr/Atp7a+
C57BL/6J-Atp7aMo-3Btlr 		normal integument phenotype J:188598
Atp7aMo-3Btlr/Atp7aMo-3Btlr
C57BL/6J-Atp7aMo-3Btlr 		abnormal coat/hair pigmentation J:153280, J:188598
Atp7aMo-4R/Y
Not Specified 		prenatal lethality, complete penetrance J:13383
Atp7aMo-4R/Atp7a+
Not Specified 		kinked vibrissae J:13383
mottled coat J:13383
Atp7aMo-5J/Y
involves: C57BL/6J * DBA/2J 		abnormal coat/hair pigmentation J:78379
preweaning lethality, complete penetrance J:78379
Atp7aMo-7ENURF/Y
Not Specified 		prenatal lethality, complete penetrance J:38977
Atp7aMo-7R/Y
Not Specified 		prenatal lethality, complete penetrance J:38977
Atp7aMo-8J/Y
involves: C3HeB/FeJ * C57BL/6J 		abnormal coat/hair pigmentation J:16313
diluted coat color J:16313
hindlimb paralysis J:16313
postnatal lethality J:38978
wavy vibrissae J:16313
Atp7aMo-8J/Atp7a+
involves: C3HeB/FeJ * C57BL/6J 		abnormal coat/hair pigmentation J:16313
diluted coat color J:16313
hindlimb paralysis J:16313
irregular coat pigmentation J:16313
mosaic coat color J:16313
wavy vibrissae J:16313
Atp7aMo-8R/Y
involves: 101 * C3H * T STOCK 		prenatal lethality, complete penetrance J:38977
Atp7aMo-9J/Y
involves: C57BL/6J 		prenatal lethality, complete penetrance J:51010
Atp7aMo-9J/Atp7a+
involves: C57BL/6J 		abnormal coat/hair pigmentation J:51010
curly vibrissae J:51010
mottled coat J:51010
Atp7aMo-10H/Atp7a+
involves: 101/H * C3H/HeH 		variegated coat color J:16303
Atp7aMo-10H/Y
involves: 101/H * C3H/HeH 		absent coat pigmentation J:16303
curly vibrissae J:16303
impaired coordination J:16303
postnatal lethality, complete penetrance J:16303
Atp7aMo-11H/Atp7a+
involves: 101/H * C3H/HeH 		perinatal lethality, incomplete penetrance J:16303
variegated coat color J:16303
Atp7aMo-11H/Y
involves: 101/H * C3H/HeH 		prenatal lethality, complete penetrance J:16303, J:38977
Atp7aMo-12DFiOD/Y
involves: 101 * C3H * T STOCK 		prenatal lethality, complete penetrance J:38977
Atp7aMo-12H/Y
involves: 101/H * C3H/HeH 		preweaning lethality, complete penetrance J:16303
Atp7aMo-12H/Atp7a+
involves: 101/H * C3H/HeH 		abnormal limb bone morphology J:16303
curly vibrissae J:16303
impaired balance J:16303
impaired coordination J:16303
variegated coat color J:16303
Atp7aMo-13H/Y
involves: 101/H * C3H/HeH 		postnatal lethality, complete penetrance J:12800
Atp7aMo-14H/Y
Not Specified 		prenatal lethality J:34477
Atp7aMo-16H/Atp7a+
SWF 		variegated coat color J:69983
Atp7aMo-17H/Atp7a+
Not Specified 		variegated coat color J:69983
Atp7aMo-18H/Atp7a+
involves: 101/H 		absent vibrissae J:179962
curly vibrissae J:179962
mottled coat J:179962
Atp7aMo-18H/Y
involves: 101/H 		prenatal lethality J:179962
Atp7aMo-blo/Y
B6.Cg-Atp7aMo-blo/J 		abnormal cartilage morphology J:36378
osteoarthritis J:36378
oxidative stress J:105736
Atp7aMo-blo/Y
involves: C57BL/6J 		abnormal copper homeostasis J:36268
decreased liver copper level J:36268
increased intestine copper level J:36268
increased kidney copper level J:36268
Atp7aMo-blo/Atp7a+
involves: C57BL/6J 		abnormal copper homeostasis J:36268
abnormal ion homeostasis J:36268
decreased brain copper level J:36268
decreased liver copper level J:36268
increased kidney copper level J:36268
Atp7aMo-blo/Y
involves: C57BL/10 		abnormal breathing pattern J:5664
abnormal pulmonary alveolus morphology J:5664
abnormal pulmonary interalveolar septum morphology J:5664
abnormal respiratory system physiology J:5664
dilated pulmonary alveolar duct J:5664
dilated respiratory conducting tube J:5664
enlarged lung J:5664
increased lung compliance J:5664
increased total lung capacity J:5664
Atp7aMo-blo/Y
Not Specified 		abnormal aorta elastic fiber morphology J:5516
abnormal aorta morphology J:5397, J:15796
abnormal hindlimb morphology J:13383
abnormal noradrenaline level J:5462
aortic aneurysm J:5397, J:5516, J:15796
cachexia J:5516
coarse hair J:5516
curly vibrissae J:13383
decreased aorta elastin content J:5516
decreased body size J:13383
decreased locomotor activity J:5462
dilated aorta J:5516
dilated ascending aorta J:15796
diluted coat color J:5462, J:13383, J:15796
hemothorax J:5516
hunched posture J:5516
increased aortic weight J:5397
lethargy J:5516
male infertility J:13383
normal mortality/aging J:38977
premature death J:13383
priapism J:5516
tremors J:5462
Atp7aMo-blo/Atp7a+
Not Specified 		abnormal aorta elastic fiber morphology J:5516
abnormal aorta morphology J:5516
abnormal hindlimb morphology J:13383
aneurysm J:5516
aortic aneurysm J:5397, J:5516
cachexia J:5516
coarse hair J:5516
curly vibrissae J:13383
decreased aorta elastin content J:5516
decreased body size J:13383
dilated aorta J:5516
diluted coat color J:13383
hemoperitoneum J:5516
hemothorax J:5516
hunched posture J:5516
lethargy J:5516
normal reproductive system phenotype J:13383
Atp7aMo-blo/?
Not Specified 		abnormal cell morphology J:5880
abnormal enzyme/coenzyme activity J:5880
Atp7aMo-blo/Atp7aMo-blo
Not Specified 		abnormal hindlimb morphology J:13383
aortic aneurysm J:5397
curly vibrissae J:13383
decreased body size J:13383
diluted coat color J:13383
female infertility J:13383
premature death J:13383
Atp7aMo-blo/Atp7aMo-br
involves: C57BL 		aortic aneurysm J:5397
Atp7aMo-br/Y
C57BL/6-Atp7aMo-br/J 		abnormal enzyme/coenzyme activity J:105736
Atp7aMo-br/Y
involves: C57BL 		decreased brain copper level J:5462
decreased circulating copper level J:5462
decreased liver copper level J:5462
decreased noradrenaline level J:5462
increased intestine copper level J:5462
Atp7aMo-brJ/Y
involves: C3H/HeJ * C57BL/6J 		abnormal coat/hair pigmentation J:33276
abnormal gait J:33276
decreased liver copper level J:33276
increased intestine copper level J:33276
mottled coat J:33276
postnatal lethality J:33276
tremors J:33276
Atp7aMo-brJ/Atp7a+
involves: C3H/HeJ * C57BL/6J 		normal homeostasis/metabolism phenotype J:33276
Atp7aMo-Btlr/Atp7a+
C57BL/6J-Atp7aMo-Btlr 		mosaic coat color J:133115, J:188598
Atp7aMo-Btlr/Y
C57BL/6J-Atp7aMo-Btlr 		perinatal lethality, complete penetrance J:133115
prenatal lethality, complete penetrance J:188598
Atp7aMo-ca/Y
Not Specified 		prenatal lethality, complete penetrance J:69983
Atp7aMo-ca/Atp7a+
Not Specified 		curly vibrissae J:69983
Atp7aMo-ca/Atp7aMo-ca
Not Specified 		prenatal lethality, complete penetrance J:69983
Atp7aMo-dp2/Atp7a+
Not Specified 		abnormal autopod morphology J:13104
abnormal coat/hair pigmentation J:13104
abnormal hair shaft melanin granule morphology J:13104
abnormal hair texture J:13104
abnormal skeleton morphology J:13104
abnormal vertebrae morphology J:13104
calcified tendon J:13104
curly vibrissae J:13104
impaired limb coordination J:13104
mottled coat J:13104
postnatal lethality J:13104
waved hair J:13104
Atp7aMo-dp2/Y
Not Specified 		embryonic lethality during organogenesis, complete penetrance J:13104
pale yolk sac J:13104
Atp7aMo-dp/Atp7a+
involves: 101/H * C3H/HeH 		abnormal enzyme/coenzyme activity J:220263
curly vibrissae J:220263
decreased brain copper level J:220263
decreased noradrenaline level J:220263
variegated coat color J:220263
Atp7aMo-dp/Y
involves: 101/H * C3H/HeH 		lethality throughout fetal growth and development J:220263
Atp7aMo-dp/Atp7a+
Not Specified 		abnormal skeleton morphology J:12943
aortic aneurysm J:5397
clubfoot J:12943
curly vibrissae J:12943
variegated coat color J:12943
Atp7aMo-dp/Y
Not Specified 		abnormal limb bone morphology J:12943
abnormal pectoral girdle bone morphology J:12943
abnormal pelvic girdle bone morphology J:12943
abnormal rib morphology J:12943
lethality throughout fetal growth and development, incomplete penetrance J:12943
perinatal lethality, complete penetrance J:12943
wide ribs J:12943
Atp7aMo-ml/Y
C3Hf/He 		abnormal coat/hair pigmentation J:173226
abnormal postnatal growth J:40664
abnormal survival J:173226
absent coat pigmentation J:173226
ataxia J:40664
cachexia J:173226
curly vibrissae J:40664
preweaning lethality, incomplete penetrance J:173226
tonic seizures J:40664
Atp7aMo-ml/Atp7a+
C3Hf/He 		variable depigmentation J:173226
Atp7aMo-ml/Y
involves: C3Hf/He 		abnormal enzyme/coenzyme activity J:12745
abnormal large intestine morphology J:12745
abnormal postnatal growth J:1132
absent coat pigmentation J:12745
ataxia J:12745
curly vibrissae J:12745
decreased brain copper level J:12745
decreased brainstem copper level J:12745
decreased copper level J:12745
decreased liver copper level J:1132, J:12745
decreased spleen weight J:12745
normal homeostasis/metabolism phenotype J:1132
increased intestine copper level J:12745
increased kidney copper level J:12745
Atp7aMo-ml/Atp7a+
involves: C3Hf/He 		curly vibrissae J:12745
decreased brain copper level J:12745
increased intestine copper level J:12745
variable depigmentation J:12745
Atp7aMo-ml/Y
involves: C3Hf/He * C57BL/6 		preweaning lethality, incomplete penetrance J:173226
Atp7aMo-ms/Y
involves: CBA 		abnormal renal tubule morphology J:80157
decreased kidney weight J:80157
decreased renal glomerulus number J:80157
increased kidney copper level J:80157
Atp7aMo-ms/Y
involves: CBA/Kw 		abnormal awl hair morphology J:14875
abnormal copper homeostasis J:14875
abnormal zigzag hair morphology J:14875
curly vibrissae J:14875
decreased brain copper level J:14875
decreased circulating ceruloplasmin level J:14875
decreased liver copper level J:14875
hindlimb paresis J:14875
increased intestine copper level J:14875
postnatal lethality, complete penetrance J:14875
weight loss J:14875
Atp7aMo-ms/Y
Not Specified 		abnormal copper level J:168658
abnormal vibrissa morphology J:15062
ataxia J:168658
curly vibrissae J:15062
decreased brain copper level J:168658
decreased liver copper level J:168658
diluted coat color J:15062
hindlimb paralysis J:168658
increased kidney copper level J:168658
increased neuron apoptosis J:157286
postnatal lethality, complete penetrance J:15062
tremors J:168658
Atp7aMo-ms/Atp7a+
Not Specified 		abnormal coat/ hair morphology J:15062
curly vibrissae J:15062
Atp7aMo-N/Atp7a+
Not Specified 		curly vibrissae J:14901
variegated coat color J:14901
Atp7aMo-N/Y
Not Specified 		prenatal lethality, complete penetrance J:14901
Atp7aMo-pew2J/Y
involves: C57BL/6J * SJL/J 		abnormal coat/hair pigmentation J:16313
diluted coat color J:16313
normal mortality/aging J:16313
Atp7aMo-pew2J/Atp7a+
involves: C57BL/6J * SJL/J 		abnormal coat/hair pigmentation J:16313
irregular coat pigmentation J:16313
mottled coat J:16313
Atp7aMo-pew3J/Atp7a+
C;B6-Atp7aMo-pew3J/GrsrJ 		abnormal coat/hair pigmentation J:88763
Atp7aMo-pew3J/Y
C;B6-Atp7aMo-pew3J/GrsrJ 		abnormal coat/hair pigmentation J:88763
premature death J:88763
Atp7aMo-pew3J/Atp7aMo-pew3J
C;B6-Atp7aMo-pew3J/GrsrJ 		abnormal coat/hair pigmentation J:88763
premature death J:88763
Atp7aMo-pew/Atp7a+
CBA/J-Atp7aMo-pew 		abnormal coat/hair pigmentation J:23989
irregular coat pigmentation J:23989
mottled coat J:23989
Atp7aMo-pew/Y
CBA/J-Atp7aMo-pew 		abnormal coat/hair pigmentation J:23989, J:39098
diluted coat color J:23989
normal mortality/aging J:23989
normal reproductive system phenotype J:23989
Atp7aMo-spot/Atp7a+
Not Specified 		variegated coat color J:69983
Atp7aMo-to/Atp7a+
B6.Cg-Atp7aMo-to/J 		abnormal hair shaft morphology J:79326
increased intestine copper level J:79328
wavy vibrissae J:79326
Atp7aMo-to/Atp7a+
Not Specified 		abnormal hair texture J:24988
abnormal limb bone morphology J:24988
aortic aneurysm J:5397
variegated coat color J:24988
wavy vibrissae J:24988
Atp7aMo-to/Y
Not Specified 		aortic aneurysm J:5397
prenatal lethality J:24988
Atp7aMo-Tohm/Y
B6.Cg-Atp7aMo-Tohm 		abnormal visceral yolk sac morphology J:105797
abnormal vitelline vascular remodeling J:105797
abnormal vitelline vasculature morphology J:105797
embryonic lethality during organogenesis, complete penetrance J:105797
hemorrhage J:105797
Atp7aMo-Tohm/Atp7a+
B6.Cg-Atp7aMo-Tohm 		abnormal Ammon gyrus morphology J:105797
abnormal aorta elastic fiber morphology J:105797
abnormal cerebellar granule layer morphology J:105797
abnormal cerebral cortex morphology J:105797
abnormal motor capabilities/coordination/movement J:105797
abnormal Purkinje cell morphology J:105797
decreased brain copper level J:105797
hemorrhage J:105797
increased brain apoptosis J:105797
mottled coat J:105797
postnatal growth retardation J:105797
postnatal lethality, incomplete penetrance J:105797
Atp7aMo-Tohm/Y
involves: AA * C3H/He * C57BL/6 * ICR 		abnormal visceral yolk sac morphology J:105797
embryonic lethality during organogenesis, complete penetrance J:105797
increased copper level J:105797
Atp7aMo-Tohm/Atp7a+
involves: AA * C3H/He * C57BL/6 * ICR 		normal mortality/aging J:105797
mottled coat J:105797
Atp7aMo-vbr/Y
Not Specified 		abnormal aorta elastic fiber morphology J:5397
abnormal aorta morphology J:5397
abnormal coat/hair pigmentation J:13473
abnormal cutaneous collagen fibril morphology J:5397
abnormal enzyme/coenzyme activity J:44695, J:53559
abnormal mitochondrial physiology J:44695
abnormal pH regulation J:44695
abnormal skin condition J:5397
aortic aneurysm J:5397
decreased creatine kinase activity J:44695
decreased creatine level J:44695
decreased skin tensile strength J:5397
normal homeostasis/metabolism phenotype J:5397
increased aortic weight J:5397
male infertility J:13473
postnatal lethality J:38977
premature death J:38977
Atp7aMo-Xm/Y
Not Specified 		prenatal lethality, complete penetrance J:38977
Atp7aMo/Y
Not Specified 		embryonic lethality during organogenesis, complete penetrance J:249, J:13041
Atp7aMo/Atp7a+
Not Specified 		abnormal coat/hair pigmentation J:249, J:13041
curly vibrissae J:249
decreased litter size J:13041
postnatal lethality, incomplete penetrance J:13041
prenatal lethality, incomplete penetrance J:13041
Atp7atm1.1Mjp/Atp7a+
Cldn6tm1(cre)Dkwu/Cldn6+
involves: C57BL/6 		curly vibrissae J:189931
hypopigmentation J:189931
postnatal lethality, incomplete penetrance J:189931
prenatal lethality, incomplete penetrance J:189931
Atp7atm1.1Mjp/Y
Cldn6tm1(cre)Dkwu/Cldn6+
involves: C57BL/6 		abnormal frontonasal prominence morphology J:189931
abnormal tail bud morphology J:189931
decreased embryo size J:189931
pale yolk sac J:189931
pallor J:189931
prenatal lethality, complete penetrance J:189931
Atp7atm1.1Mjp/Y
Mnx1tm4(cre)Tmj/Mnx1+
involves: 129S1/Sv * C57BL/6 		abnormal copper level J:221066
abnormal gait J:221066
abnormal gonadal fat pad morphology J:221066
abnormal motor capabilities/coordination/movement J:221066
abnormal neuromuscular synapse morphology J:221066
decreased grip strength J:221066
decreased skeletal muscle mass J:221066
impaired coordination J:221066
limb grasping J:221066
motor neuron degeneration J:221066
muscular atrophy J:221066
Atp7atm1.2Mlke/Y
involves: C57BL/6J 		abnormal cell physiology J:266704
abnormal copper level J:266704
abnormal skeletal muscle fiber morphology J:266704
normal behavior/neurological phenotype J:266704
increased brain copper level J:266704
increased skeletal muscle fiber diameter J:266704
normal nervous system phenotype J:266704
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11/19/2024
MGI 6.24 		The Jackson Laboratory