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Gene: Atxn7l3 MGI:3036270

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Gene Summary

Name:
ataxin 7-like 3
Synonyms:
E030022H21Rik

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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 retina vasculature morphology Atxn7l3tm1.1(KOMP)Wtsi HET Early adult 7.36×10-09
decreased total retina thickness Atxn7l3tm1.1(KOMP)Wtsi HET Early adult 3.89×10-05
short tibia Atxn7l3tm1.1(KOMP)Wtsi HET Early adult 1.33×10-07
abnormal retina blood vessel morphology Atxn7l3tm1.1(KOMP)Wtsi HET Early adult 8.36×10-09
preweaning lethality, complete penetrance Atxn7l3tm1.1(KOMP)Wtsi HOM   Early adult 0.00
abnormal coat/hair pigmentation Atxn7l3tm1.1(KOMP)Wtsi HET Early adult 9.02×10-05
abnormal vocalization Atxn7l3tm1.1(KOMP)Wtsi HET   Early adult 2.45×10-05

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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 Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

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Human diseases caused by Atxn7l3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atxn7l3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Coarse metaphyseal trabecularization, Abnormal pelvic girdle b... ORPHA:2779
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Dilution, Pigmentary
Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypo... OMIM:126070
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Albinism, Hypopigmentation of the fundus, Hypopigmentation of hair, Blue irides OMIM:606574
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the fundus, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Woolly Hair
Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, W... ORPHA:170
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Hypoplastic fingernail, Abnormal metaphysis morphology, ... ORPHA:240
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... OMIM:619165
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Central Retinal Vein Occlusion
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... ORPHA:411527
Hidrotic Ectodermal Dysplasia
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Clubbing of fingers, Absent ... ORPHA:189
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Volar fing... OMIM:619217
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the... ORPHA:33445
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of the fu... OMIM:203200
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology ORPHA:2786
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Aplasia/Hypoplasia of the nails, Micrognathia, ... ORPHA:2756
White Forelock With Malformations
White forelock, Poliosis, Aplasia/Hypoplasia of the distal phalanges of the toes OMIM:277740
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Chorioretinal coloboma, Numerous pigmented fr... OMIM:601706
Albinism, Oculocutaneous, Type Vi
Fair hair, Hypoplasia of the fovea, Generalized hypopigmentation OMIM:113750
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Dyschondrosteosis And Nephritis
Short tibia, Radial bowing, Ulnar bowing, Short forearm OMIM:127350
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Small nail, Malaligned carpal bone, Patellar disloc... OMIM:228900
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Deep-set nails, O... OMIM:201170
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly, Retinal coloboma OMIM:258865
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Retinal d... OMIM:607143
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormal macular morphology, Synophrys, W... ORPHA:897
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Blount Disease
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... ORPHA:2768
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Eales Disease
Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin... ORPHA:40923
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Retinopathy, Abnormal pelvis bone ossification, Limb undergrowth, Short... ORPHA:1505
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Microphthalmia With Limb Anomalies
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydac... ORPHA:1106
Griscelli Syndrome Type 1
Retinopathy, Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Cone/cone-rod dystrophy, Rhizomelia, Sh... OMIM:608940
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Abnormal ulnar metaphysis morpho... ORPHA:177910
Oculocutaneous Albinism Type 1
Depigmented fundus, Generalized hypopigmentation of hair, Generalized hypopigmentation, White eye... ORPHA:352731
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Abnormality o... OMIM:193220
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... OMIM:601559
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Slc35A2-Cdg
Short tibia, Camptodactyly of finger, Hip subluxation, Hypopigmentation of the skin, Coxa valga, ... ORPHA:356961
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Genu valgum, Metaphyseal irregularity, Alopecia, Bulging epiphyses, Rickets of the lo... OMIM:600785
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... OMIM:268305
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Toe syndactyly, Iris hypopigmentation, Clinodactyly... ORPHA:999
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Fair hair, Blue... OMIM:614613
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Optic nerve hypoplasia,... OMIM:603671
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... OMIM:609945
Atelosteogenesis Type Iii
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... ORPHA:56305
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... OMIM:250215
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... ORPHA:2634
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Thick hair, Finger syndactyly, Cen... ORPHA:2751
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Sparse eyebrow, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Micro... OMIM:616300
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Muenke Syndrome
Carpal synostosis, Hypopigmented skin patches, Hypopigmentation of hair, Short palm, Hypermelanot... ORPHA:53271
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:277580
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di... OMIM:613091
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl... ORPHA:1988
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,... OMIM:263520
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... OMIM:227270
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... OMIM:602111
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Premature graying of hair, Cutaneous finger syndactyly, Synophrys, Clino... OMIM:148820
Waardenburg Syndrome Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... ORPHA:894
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Frontal hirsutism, Me... ORPHA:96334
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila... OMIM:119800
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, Hypoplasia of the fovea, Blue irides, White ... OMIM:203100
Tibial Hemimelia
Absent tibia OMIM:275220
Squalene Synthase Deficiency
Knee flexion contracture, 2-3 toe syndactyly, Abnormality of hair pigmentation, Micrognathia, Sle... OMIM:618156
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Microphthalmia With Limb Anomalies
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... OMIM:206920
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact... OMIM:617925
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... OMIM:171480
Omodysplasia 1
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... OMIM:258315
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi... ORPHA:3320
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Micrognathia OMIM:619074
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia OMIM:164900
Hermansky-Pudlak Syndrome 11
Melanocytic nevus, Iris transillumination defect, Ocular albinism, Albinism, Fair hair, Hypoplasi... OMIM:619172
Brittle Cornea Syndrome
Hallux valgus, Abnormality of hair pigmentation, Hip dysplasia, Camptodactyly, Arachnodactyly, Re... ORPHA:90354
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Acquired Hypertrichosis Lanuginosa
Hypopigmentation of hair, Abnormal eyebrow morphology, Generalized hirsutism, Fine hair ORPHA:2221
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... OMIM:600002
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Occipital Horn Syndrome
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... ORPHA:198
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... OMIM:208500
Atelosteogenesis, Type I
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... OMIM:108720
Fibrochondrogenesis 1
Hypoplastic toenails, Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long b... OMIM:228520
Waardenburg Syndrome, Type 2E
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Iris hypopigmentation, White eyela... OMIM:611584
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... ORPHA:1788
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Orofaciodigital Syndrome X
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia OMIM:165590
Acro-Renal-Mandibular Syndrome
Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln... ORPHA:958
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Avascular necrosis of the capital femoral epiphysis, Macular edema, Retinal cotton wool spot, Ret... ORPHA:247691
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Saul-Wilson Syndrome
Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... OMIM:618150
Waardenburg Syndrome
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Premature graying of hair, Synophr... ORPHA:3440
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... ORPHA:2879
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o... OMIM:164745
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Schneckenbecken Dysplasia
Hypoplastic toenails, Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thicken... ORPHA:3144
Waardenburg Syndrome, Type 1
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmentation of the fun... OMIM:193500
Duane Retraction Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Patchy hypopigme... ORPHA:233
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d... OMIM:200980
Carney Complex, Type 1
Profuse pigmented skin lesions, Multiple lentigines, Freckling, Hirsutism, Red hair OMIM:160980
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Abnormal toenail... ORPHA:1827
Cranioectodermal Dysplasia 1
Short toe, Rhizomelia, Short ribs, Retinal dystrophy, Clinodactyly, Short humerus, Short nail, Fi... OMIM:218330
Chediak-Higashi Syndrome
Giant melanosomes in melanocytes, Hypopigmentation of the skin, Ocular albinism, Macular hypoplas... OMIM:214500
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Finger syndactyly, Coarse hair, Micrognathia, Widow's peak, Clinodactyly of the 5th fin... ORPHA:1974
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hypopigmentation of hair, Freckling, Multiple ... ORPHA:3214
Brittle Cornea Syndrome 1
Red hair, Congenital hip dislocation, Palmoplantar cutis laxa OMIM:229200
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Small hand, Hip dysplasia, Hypopigmentation of hair, Short foot, Ch... ORPHA:398079
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Campomelic Dysplasia
11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo... ORPHA:140
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Ocular albinism, Iris hypopigmentation, Abnormal thumb morphology, Hypopigmentatio... ORPHA:2719
Prader-Willi Syndrome
Genu valgum, Hypopigmentation of the skin, Small hand, Short foot, Generalized hypopigmentation, ... OMIM:176270
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... OMIM:276820
Hermansky-Pudlak Syndrome
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Iris hypopigmentation, Long eye... ORPHA:79430
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98795
Campomelic Dysplasia
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... OMIM:114290
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613266
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Generalized h... ORPHA:3322
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Small hand, Hip dysplasia, Hypopigmentation of hair, Short foot, Ch... ORPHA:398069
Acrodysostosis With Multiple Hormone Resistance
Short phalanx of finger, Short toe, Short metacarpal, Absent/hypoplastic paranasal sinuses, Fair ... ORPHA:280651
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Generalized... ORPHA:238468
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... OMIM:236680
Vici Syndrome
Hypopigmentation of the skin, Ocular albinism, Macular hypoplasia, Micrognathia, Albinism, Macula... OMIM:242840
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of the skin, Small hand, Micrognathia, Iris hypopigmentation, Clinodactyly, Clin... ORPHA:177907
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Limitation of move... ORPHA:98794
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Hip dislocation, Arachnodactyly ORPHA:96169
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... OMIM:304120
Smith-Lemli-Opitz Syndrome
Talipes calcaneovalgus, 2-3 toe syndactyly, Rhizomelia, Optic atrophy, Finger syndactyly, Microgn... ORPHA:818
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:177901
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Chédiak-Higashi Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Large clumps of pigment irregularly distribu... ORPHA:167
Prader-Willi-Like Syndrome
Pedal edema, Hypopigmentation of the skin, Small hand, Iris hypopigmentation, Hip dysplasia, Hypo... ORPHA:398073
Kinsship Syndrome
Polydactyly, Coxa valga, Micrognathia, Synophrys, Hip dislocation, Dislocated radial head, Hypert... OMIM:619297
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... ORPHA:2753
Charge Syndrome
Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sloping shoulde... OMIM:214800
Prader-Willi Syndrome
Hypopigmentation of the skin, Small hand, Hip dysplasia, Hypopigmentation of hair, Short foot ORPHA:739
Menkes Disease
Micrognathia, Woolly hair, Hypopigmentation of hair, Sparse hair, Abnormal metaphysis morphology,... ORPHA:565
Degcags Syndrome
Polydactyly, Genu valgum, Preaxial hand polydactyly, Abnormal eyebrow morphology, Hypopigmentatio... OMIM:619488
Cystinosis, Nephropathic
Pigmentary retinopathy, Genu valgum, Retinopathy, Hypopigmentation of the skin, Retinal pigment e... OMIM:219800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Hypoplastic toenails, Curly hair, Small hand, Micrognathia, Synophrys, Long eyel... ORPHA:444077
Syndromic Diarrhea
Trichorrhexis nodosa, Cafe-au-lait spot, Generalized hypopigmentation, Brittle hair, Woolly hair,... ORPHA:84064
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Hypopigmented skin patches, Hypopigmentat... ORPHA:163746

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 Atxn7l3

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 Atxn7l3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The SAGA coactivator complex acts on the whole transcribed genome and is required for RNA polymerase II transcription. Genes & development (September 2014) Atxn7l3tm1(KOMP)Wtsi PMC4173158

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MGI Allele Allele Type Produced
Atxn7l3tm210450(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Atxn7l3tm1.1(KOMP)Wtsi Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Atxn7l3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice
Atxn7l3tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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