Oca2 Phenotype Annotations - Multigenic Genotypes

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Oca2
oculocutaneous albinism II
MGI:97454

76 phenotypes from multigenic genotypes

Allelic Composition Genetic Background	Annotated Term	Reference
a/a Lyst^bg/Lyst^bg Oca2^p-J/Oca2^p-J involves: C3H/HeJ * C3H/Rl * C57BL/6J	abnormal choroid melanin granule morphology	J:5346
	abnormal melanosome morphology	J:5346
a/a Myo5a^d/Myo5a⁺ Oca2^p/Oca2⁺ Tyrp1^B-lt/Tyrp1⁺ involves: C58 * CT/Ch	diluted coat color	J:13094
a/a Oca2^p-J/Oca2^p-J involves: C3H/HeJ	abnormal choroid melanin granule morphology	J:5346
	abnormal melanogenesis	J:5346
	abnormal melanosome morphology	J:5346
a/a Oca2^p/Oca2^p Not Specified	abnormal coat/hair pigmentation	J:12958, J:78801
	abnormal hair follicle melanin granule distribution	J:12958
	abnormal hair follicle melanin granule morphology	J:12958
	abnormal hair follicle melanin granule shape	J:12958
	abnormal hair follicle melanocyte morphology	J:78801
	decreased ear pigmentation	J:36414, J:78801
	decreased eye pigmentation	J:78801
	decreased skin pigmentation	J:36414
	decreased tail pigmentation	J:78801
Ift56^hop-hpy/Ift56^hop-hpy Oca2^p-s/Oca2^p-s Not Specified	abnormal spermiogenesis	J:89544
	male infertility	J:89544
	postnatal lethality, incomplete penetrance	J:89544
	premature death	J:89544
	teratozoospermia	J:89544
Lyst^bg-slt/Lyst^bg-slt Myo5a^d/Myo5a^d Oca2^p/Oca2^p Tyrp1^b/Tyrp1^b involves: CT/Ch * YZ57/Ch	abnormal hair cycle	J:83269
	delayed hair regrowth	J:83269
	diluted coat color	J:83269
	premature hair loss	J:83269
Lyst^bg-slt/Lyst^bg-slt Oca2^p/Oca2^p involves: CT/Ch * YZ57/Ch	abnormal eye pigmentation	J:25388
	diluted coat color	J:25388
Oca2^p-4THO-II/Oca2^p-4THO-II involves: 101/Rl * C3H/Rl	cleft palate	J:12553
Oca2^p-4THO-II/Oca2^p-4THO-II involves: 101/Rl * C3H/Rl	neonatal lethality	J:12553
Oca2^p-4THO-II/Oca2^p-8FDFoD involves: 101/Rl * C3H/Rl	cleft palate	J:12553
Oca2^p-4THO-II/Oca2^p-8FDFoD involves: 101/Rl * C3H/Rl	neonatal lethality	J:12553
Oca2^p-4THO-II/Oca2^p-80K involves: 101/Rl * C3H/Rl	normal craniofacial phenotype	J:12553
Oca2^p-4THO-II/Oca2^p-83FBFo involves: 101/Rl * C3H/Rl	normal craniofacial phenotype	J:12553
Oca2^p-6H/Oca2^p-6H involves: 101/H * C3H/HeH	abnormal acrosome morphology	J:5219
	abnormal eye pigmentation	J:15082
	abnormal gait	J:13720
	abnormal gametes	J:5219
	abnormal gametogenesis	J:5219
	abnormal oogenesis	J:49046
	abnormal sperm flagellum morphology	J:5219
	abnormal sperm head morphology	J:5219
	abnormal spermatid morphology	J:5219
	abnormal spermatogenesis	J:49046
	abnormal spermiogenesis	J:5219
	decreased body size	J:5219
	decreased body weight	J:5219
	decreased eye pigmentation	J:5219
	decreased male germ cell number	J:5219
	diluted coat color	J:5219, J:15082
	enlarged sperm head	J:5219
	impaired coordination	J:5219
	infertility	J:5219
	male infertility	J:5219
	multinucleated giant male germ cells	J:49046
	nervous	J:5219
	normal skeleton phenotype	J:5219
	small seminiferous tubules	J:5219
	small testis	J:5219
	testis hypoplasia	J:5219
Oca2^p-12DTR/Oca2^p-12DTR involves: 101/Rl * C3H/Rl	abnormal involuntary movement	J:29903
	decreased body size	J:29903
	diluted coat color	J:29903
	female infertility	J:29903
	male infertility	J:29903
	premature death	J:29903
	preweaning lethality, complete penetrance	J:29903
	tremors	J:29903
Oca2^p-12DTR/Oca2^p Not Specified	decreased eye pigmentation	J:29903
Oca2^p-12DTR/Oca2^p Not Specified	diluted coat color	J:29903
Oca2^p-17FATWb/Oca2^p-17FATWb involves: 101/Rl * C3H/Rl	postnatal lethality	J:29903
Oca2^p-23DFiOD/Oca2^p-23DFiOD Not Specified	prenatal lethality, complete penetrance	J:66645
Oca2^p-23DFiOD/Oca2^p-x Not Specified	increased kidney weight	J:66645
	increased liver weight	J:66645
	increased spleen weight	J:66645
	increased total fat pad weight	J:66645
Oca2^p-25H/Oca2⁺ Not Specified	decreased litter size	J:5219
Oca2^p-25H/Oca2^p-25H Not Specified	abnormal acrosome morphology	J:5219
	abnormal maternal nurturing	J:49046
	abnormal pup retrieval	J:49046
	abnormal sperm flagellum morphology	J:5219
	abnormal sperm head morphology	J:5219
	abnormal spermatid morphology	J:5219
	decreased body size	J:5219
	decreased body weight	J:5219
	decreased eye pigmentation	J:5219
	decreased male germ cell number	J:5219
	diluted coat color	J:5219
	normal endocrine/exocrine gland phenotype	J:49046
	enlarged sperm head	J:5219
	impaired coordination	J:5219
	multinucleated giant male germ cells	J:5219
	nervous	J:5219
	normal skeleton phenotype	J:5219
	small seminiferous tubules	J:5219
	small testis	J:5219
	testis hypoplasia	J:5219
Oca2^p-30PUb/Oca2^p-30PUb Not Specified	prenatal lethality, complete penetrance	J:89922
Oca2^p-30PUb/Oca2^p-x Not Specified	abnormal circulating cholesterol level	J:89922
	abnormal circulating HDL cholesterol level	J:89922
	abnormal glucose homeostasis	J:89922
	abnormal lipid homeostasis	J:89922
	hepatic steatosis	J:89922
	hyperglycemia	J:89922
	increased body weight	J:89922
	increased circulating cholesterol level	J:89922
	increased circulating insulin level	J:89922
	increased circulating triglyceride level	J:89922
	increased kidney weight	J:89922
	increased liver weight	J:89922
	increased spleen weight	J:89922
	increased total fat pad weight	J:89922
Oca2^p-81H/Oca2^p-81H involves: C3H/HeH	prenatal lethality	J:181531
Oca2^p-81H/Oca2^p-81H Not Specified	decreased eye pigmentation	J:2108
Oca2^p-81H/Oca2^p-81H Not Specified	prenatal lethality	J:2108
Oca2^p-82H/Oca2^p-82H involves: C3H/HeH	prenatal lethality	J:2108, J:181531
Oca2^p-87H/Oca2^p-87H involves: 101/H * C3H/HeH	prenatal lethality	J:2108
Oca2^p-87H/Oca2^p involves: 101/H * C3H/HeH	abnormal coat/hair pigmentation	J:2108, J:78801
Oca2^p-87H/Oca2^p involves: 101/H * C3H/HeH	decreased eye pigmentation	J:78801
Oca2^p-116G/Oca2^p-116G involves: 101/Rl * C3H/Rl	absent eye pigmentation	J:100221
	cleft palate	J:100221
	postnatal lethality, complete penetrance	J:29903, J:100221
Oca2^p-132G/Oca2^p-132G involves: 101/Rl * C3H/Rl	prenatal lethality	J:29903
Oca2^p-226THO-I/Oca2^p-4THO-II involves: 101/Rl * C3H/Rl	cleft palate	J:12553
Oca2^p-226THO-I/Oca2^p-4THO-II involves: 101/Rl * C3H/Rl	neonatal lethality	J:12553
Oca2^p-cp/Oca2^p-cp Not Specified	cleft palate	J:13618
	decreased eye pigmentation	J:13618
	diluted coat color	J:13618
	jerky movement	J:2108
	perinatal lethality, incomplete penetrance	J:2108
	postnatal growth retardation	J:2108
Oca2^p-J/Oca2^p-J C3H/HeJ-Oca2^p-J/J	decreased eye pigmentation	J:2108
Oca2^p-J/Oca2^p-J C3H/HeJ-Oca2^p-J/J	diluted coat color	J:2108
Oca2^p/Oca2^p-116G involves: 101/Rl * C3H/Rl	abnormal coat/hair pigmentation	J:100221
Oca2^p/Oca2^p-116G involves: 101/Rl * C3H/Rl	absent eye pigmentation	J:100221
Oca2^p/Oca2^p Tyr^c-i/Tyr^c-i involves: STOCK Tyr^c-r	abnormal coat/hair pigmentation	J:83666

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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