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Gene: Alg8 MGI:2141959

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Gene Summary

Name:
asparagine-linked glycosylation 8 (alpha-1,3-glucosyltransferase)
Synonyms:
LOC381903

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal chorioallantoic fusion Alg8em1(IMPC)J HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Alg8em1(IMPC)J HOM   E12.5 0.00
hyperactivity Alg8em1(IMPC)J HET Early adult 1.07×10-05
preweaning lethality, complete penetrance Alg8em1(IMPC)J HOM   Early adult 0.00
abnormal embryo size Alg8em1(IMPC)J HOM E9.5 0.00
decreased bone mineral content Alg8em1(IMPC)J HET Early adult 3.55×10-06
abnormal vibrissa morphology Alg8em1(IMPC)J HET Early adult 9.31×10-06
abnormal coat/hair pigmentation Alg8em1(IMPC)J HET   Late adult 3.05×10-05
increased total body fat amount Alg8em1(IMPC)J HET Early adult 3.26×10-05
abnormal embryo turning Alg8em1(IMPC)J HOM E9.5 0.00
decreased lean body mass Alg8em1(IMPC)J HET Early adult 4.76×10-06
embryonic growth retardation Alg8em1(IMPC)J HOM E9.5 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Gross Morphology Embryo E9.5

Images

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Alg8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Alg8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation OMIM:608104
Alg8-Cdg
Intrauterine growth retardation ORPHA:79325
Polycystic Liver Disease 3 With Or Without Kidney Cysts
OMIM:617874

The table below shows human diseases predicted to be associated to Alg8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Immunodeficiency 8
Hyperactivity OMIM:615401
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Osteopenia OMIM:608747
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity OMIM:617796
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Developmental And Epileptic Encephalopathy 43
Hyperactivity OMIM:617113
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism, Small for gestational age ORPHA:85288
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Sabinas Brittle Hair Syndrome
Brittle hair, Nail dysplasia, Nail dystrophy, Sparse hair, Dry hair OMIM:211390
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Abnormality of retinal pigmentation, Albinism, Hypopigmentation of the ... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Hypopigmented skin patches, Vitiligo, Abnormal eyelash morphology, Pol... ORPHA:3437
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Coffin-Siris Syndrome 8
Long eyelashes, Thick eyebrow, Hyperactivity, Failure to thrive, Sparse scalp hair OMIM:618362
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Alazami-Yuan Syndrome
Long eyelashes, Thick eyebrow, Hyperactivity, Highly arched eyebrow, Low anterior hairline, Synop... OMIM:617126
Morm Syndrome
Hyperactivity, Truncal obesity ORPHA:75858
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Chromosome Xq25 Duplication Syndrome
Thick eyebrow, Hyperactivity, Sparse eyebrow, Highly arched eyebrow OMIM:300979
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:177910
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Oculocutaneous Albinism Type 2
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hyperpigmented nevi, Abnormality o... ORPHA:79432
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Hyperactivity, Congenital contracture, Highly arched eyebrow, Joint co... ORPHA:352490
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Truncal obesity, Synophrys OMIM:613192
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Iris hypopigmentation, Irr... ORPHA:999
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsutism, Red hair OMIM:160980
Mucopolysaccharidosis, Type Iiia
Coarse hair, Hyperactivity, Dense calvaria, Inguinal hernia, Synophrys, Umbilical hernia, Hirsutism OMIM:252900
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized hirsutism, Reduced intraabdominal adipose tissue, Hyperactivity, Generalized lipodyst... ORPHA:363400
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Hyperactivity, Congenital diaphragmatic hernia, Attention deficit hyperactivity ... OMIM:614294
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hyperactivity, Osteoporosis, Truncal obesity, Failure to thrive, Low a... ORPHA:73272
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder OMIM:301013
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Red hair OMIM:614613
Mucopolysaccharidosis, Type Iiic
Coarse hair, Hernia, Hyperactivity, Dense calvaria, Synophrys, Hirsutism OMIM:252930
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Mucopolysaccharidosis, Type Iiib
Coarse hair, Hyperactivity, Dense calvaria, Synophrys, Hirsutism OMIM:252920
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Graves Disease, Susceptibility To, 1
Hyperactivity, Weight loss OMIM:275000
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Synophrys OMIM:615824
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:611584
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
13Q12.3 Microdeletion Syndrome
Hyperactivity, Obesity, Congenital diaphragmatic hernia, Failure to thrive, Camptodactyly ORPHA:412035
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Hernia, Enamel hypoplasia, Aplasia/Hypoplasia of the eyebrow, Hyperactiv... OMIM:617052
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Failure to thrive, Hyperactivity OMIM:619239
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Trichorrhexis nodo... ORPHA:238468
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hypopigmentation of hai... ORPHA:3322
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Hyperthyroidism, Nonautoimmune
Hyperactivity, Small for gestational age OMIM:609152
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Chediak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Silver-gray hair, Ocular albinism, Giant ... OMIM:214500
Insensitivity To Pain, Congenital, With Anhidrosis
Hyperactivity, Sparse scalp hair, Corneal scarring, Nail dystrophy OMIM:256800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Myelofibrosis, Long eyelashes, Hyperactivity, Loose anagen hair, Ingui... OMIM:607721
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Long eyelashes, Hypopigmentation of the skin, Partial albinism, Ocular ... ORPHA:79430
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Vici Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism OMIM:242840
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Trichorrhexis nodosa, Generalized hypopigmen... ORPHA:84064
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Weight loss, Small for gestational age ORPHA:424
Histidinemia
Hyperactivity ORPHA:2157
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Frontal upsweep of hair, Generalized hypo... OMIM:176270
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Hypopigmentation of hair, Dry hair, Coarse hair ORPHA:1974
Familial Gestational Hyperthyroidism
Hyperactivity, Weight loss ORPHA:99819
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation ORPHA:2719
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Chédiak-Higashi Syndrome
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Larg... ORPHA:167
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperpigmentation of the skin, Iris hypop... ORPHA:177907
Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:398073
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Long eyela... OMIM:619488
Acrodysostosis With Multiple Hormone Resistance
Fair hair, Blue irides, Red hair ORPHA:280651
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology ORPHA:818
Cystinosis, Nephropathic
Hypopigmentation of the skin, Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopi... OMIM:219800
Congenital Disorder Of Glycosylation, Type Ih
Intrauterine growth retardation OMIM:608104
Alg8-Cdg
Intrauterine growth retardation ORPHA:79325
Polycystic Liver Disease 3 With Or Without Kidney Cysts
OMIM:617874

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Alg8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Alg8.

No publications found that use IMPC mice or data for Alg8.

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MGI Allele Allele Type Produced
Alg8tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Alg8em1(IMPC)J Exon Deletion Mice

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