banner
Genes Phenotypes Help, News, Blog

Gene: Afg1l MGI:2148801

Log in to follow

Gene Summary

Name:
AFG1 like ATPase
Synonyms:
Lace1

Order Alleles

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
hyperactivity Afg1lem1(IMPC)Kmpc HOM Late adult 6.00×10-07
abnormal coat/hair pigmentation Afg1lem1(IMPC)Kmpc HOM Middle aged adult 4.93×10-09
abnormal coat/ hair morphology Afg1lem1(IMPC)Kmpc HOM Late adult 9.10×10-06
abnormal coat/hair pigmentation Afg1lem1(IMPC)Kmpc HOM Late adult 1.49×10-07
increased heart weight Afg1lem1(IMPC)Kmpc HOM Late adult 9.72×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Hind Leg and Hip

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images
Eye Morphology

Images Slit Lamp

3 Images

View images

Human diseases caused by Afg1l 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 Afg1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Ringed Hair
Abnormal hair morphology OMIM:180600
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
White Forelock With Malformations
White forelock, Atrial septal defect, Poliosis OMIM:277740
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Ethanolaminosis
Cardiomegaly OMIM:227150
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Woolly Hair, Autosomal Recessive 3
Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair OMIM:616760
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Aggressive behavior OMIM:618808
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi, Brittle hair OMIM:617252
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Cafe-au-lait spot, Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
8p23.1 deletion syndrome
Hyperactivity, Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Uncombable Hair Syndrome 1
Uncombable hair, Pili canaliculi, Dry hair OMIM:191480
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Hirsutism ORPHA:85288
Coffin-Siris Syndrome 8
Hyperactivity, Sparse scalp hair, Long eyelashes, Thick eyebrow, Self-injurious behavior, Hypertr... OMIM:618362
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Alazami-Yuan Syndrome
Highly arched eyebrow, Hyperactivity, Hirsutism, Synophrys, Long eyelashes, Low anterior hairline... OMIM:617126
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Abnormal heart morphology, Hypopigmentation of hair, Alopecia ORPHA:1067
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, Hypopigmentation of the skin, Polyphagia, Iris hypopigme... ORPHA:411515
Phenylketonuria
Hyperactivity, Generalized hypopigmentation, Compulsive behaviors, Attention deficit hyperactivit... OMIM:261600
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly, C... OMIM:252920
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Gand Syndrome
Hyperactivity, Tics, Inappropriate laughter, Sparse hair OMIM:615074
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme... ORPHA:33445
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... ORPHA:998
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Polyphagia, Hypopigmentation of hair ORPHA:177910
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperpigmentation of the skin, Hyperactivity, Attention defi... OMIM:619827
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Motor stereotypy, Synophrys OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder OMIM:617182
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Sparse hair OMIM:613576
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair, Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair, Polyphagia ORPHA:71526
Fg Syndrome 3
Hyperactivity, Frontal upsweep of hair, Fine hair, Sparse hair OMIM:300406
Griscelli Syndrome Type 2
Premature graying of hair, Hepatomegaly, Hypopigmentation of hair, Iris hypopigmentation, Splenom... ORPHA:79477
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive behavior OMIM:615516
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Classic Phenylketonuria
Attention deficit hyperactivity disorder, Self-injurious behavior, Hypopigmentation of the skin, ... ORPHA:79254
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
2Q23.1 Microdeletion Syndrome
Highly arched eyebrow, Hyperactivity, Polyphagia, Synophrys, Generalized hirsutism, Motor stereot... ORPHA:228402
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Tongue thrusting, Hypopigmentation of the skin, Recurrent hand flapping... ORPHA:411511
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Motor stereotypy, Attent... OMIM:620141
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Hirsutism, Asymmetric septal hypertrophy, Synophrys, Splenomegaly, C... OMIM:252900
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Red hair, Hyperactivity, Fair hair OMIM:614613
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Splenomegaly, H... OMIM:252930
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Abnormal heart morphology, Dysphagia, Hypopigmentation of hair ORPHA:70472
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Impulsivity, Synophrys OMIM:300143
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyperactivity, Patent foramen ovale, Synophrys, Curly hair, Sparse eyebrow, Sparse hair, Self-inj... OMIM:620075
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenome... OMIM:618541
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Tongue thrusting, Hyperactivity, Hypopigmentation of the skin, Recurren... ORPHA:98794
Carney Complex, Type 1
Multiple lentigines, Red hair, Hirsutism, Cardiac myxoma, Profuse pigmented skin lesions, Freckling OMIM:160980
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, ... ORPHA:98795
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Melanocytic nevus, Albini... OMIM:203300
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Naxos Disease
Nail dystrophy, Right ventricular cardiomyopathy, Woolly hair, Curly hair, Abnormal morphology of... OMIM:601214
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Polyphagia OMIM:609734
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Squalene Synthase Deficiency
Bicuspid aortic valve, Abnormality of hair pigmentation OMIM:618156
Brittle Cornea Syndrome 1
Red hair, Mitral valve prolapse OMIM:229200
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, White forelock, Cafe... OMIM:611584
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Syndromic Diarrhea
Trichorrhexis nodosa, Hepatomegaly, Hypopigmentation of hair, Brittle hair, Generalized hypopigme... ORPHA:84064
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Overfriendliness, Bicuspid aortic valve, A... ORPHA:96169
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Hypopigmentation of hair, Hyperpigmentation of the skin, Head-banging, ... ORPHA:177907
Hermansky-Pudlak Syndrome
Anorexia, Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Long eyelashes,... ORPHA:79430
Chediak-Higashi Syndrome
Hepatomegaly, Hypopigmentation of hair, Silver-gray hair, Hypopigmentation of the skin, Giant mel... OMIM:214500
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Compulsive beha... ORPHA:398069
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177901
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hepatomegaly, Hypopigmentation of hair, He... ORPHA:163746
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iri... ORPHA:98754
Brittle Cornea Syndrome
Pulmonic stenosis, Abnormality of hair pigmentation, Mitral valve prolapse ORPHA:90354
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Ski... ORPHA:398079
Vici Syndrome
Atrial septal defect, Hypopigmentation of hair, Cardiomyopathy, Hypopigmentation of the skin, Dys... OMIM:242840
Histidinemia
Hyperactivity ORPHA:2157
Degcags Syndrome
Premature graying of hair, Hepatomegaly, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Dys... OMIM:619488
Prader-Willi Syndrome
Attention deficit hyperactivity disorder, Hypopigmentation of the skin, Polyphagia, Hypopigmentat... ORPHA:739
Chédiak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Large clumps of pigment irregularly distr... ORPHA:167
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Hypopigmentation of hair, Abnormal eyelash morphology, Attention d... ORPHA:818
Cystinosis, Nephropathic
Polydipsia, Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Splenomegaly, D... OMIM:219800
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565

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 Afg1l

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 Afg1l.

No publications found that use IMPC mice or data for Afg1l.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Afg1ltm381003(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Afg1lem1(IMPC)Kmpc Exon Deletion Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter