Gene Summary

Name:
ankyrin repeat and LEM domain containing 1
Synonyms:
Ankrd41,  8430438L13Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 coat/hair pigmentation Ankle1tm1(KOMP)Wtsi HOM Early adult 1.66×10-11
decreased locomotor activity Ankle1tm1(KOMP)Wtsi HOM Early adult 9.76×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

Phenotype associated images not available

Human diseases caused by Ankle1 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 Ankle1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia OMIM:190200
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
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
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock, Ataxia OMIM:172850
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Gait ataxia, Fair hair OMIM:618808
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Ataxia, Melanin pigment... OMIM:256710
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair, Athetosis OMIM:257800
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Urocanase Deficiency
Fair hair, Blue irides, Ataxia OMIM:276880
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Genera... ORPHA:33445
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Griscelli Syndrome Type 1
Premature graying of hair, Ataxia, Partial albinism, White hair, Iris hypopigmentation ORPHA:79476
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Broad-base... ORPHA:411515
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
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Waardenburg Syndrome Type 1
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopig... ORPHA:894
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Autosomal Recessive Spastic Paraplegia Type 23
Spastic gait, Vitiligo, Silver-gray hair, Multiple lentigines, Waddling gait ORPHA:101003
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
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
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots, Ataxia, Gait di... ORPHA:100
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
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
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Inability to walk, Ataxia ORPHA:70472
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Iris hypopigmentation, Irr... ORPHA:999
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
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Gait imbalance, Br... ORPHA:98795
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsutism, Red hair OMIM:160980
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Gait imbal... ORPHA:411511
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Red hair OMIM:614613
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, ... OMIM:203300
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Ataxia, Nail dystrophy, Sparse scalp hair, Generalized hypopigmentatio... ORPHA:3322
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Iris hypopigmentation, Gait imbal... ORPHA:98794
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Chediak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Ataxia, Silver-gray hair, Ocular albinism... OMIM:214500
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Trichorrhexis nodo... ORPHA:238468
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Athetosis, Ataxia, Ocular albinism, Iris hypopigmentation ORPHA:2719
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Gait disturbance ORPHA:90354
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Lethargy ORPHA:398079
Ch├ędiak-Higashi Syndrome
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Inab... ORPHA:167
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
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Lethargy ORPHA:398069
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Frontal upsweep of hair, Generalized hypo... OMIM:176270
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Hypopigmentation of hair, Dry hair, Coarse hair ORPHA:1974
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

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 Ankle1

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 Ankle1.

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

Title Journal IMPC Allele PubMed ID
The GIY-YIG Type Endonuclease Ankyrin Repeat and LEM Domain-Containing Protein 1 (ANKLE1) Is Dispensable for Mouse Hematopoiesis. PloS one (March 2016) Ankle1tm1.2(KOMP)Wtsi Ankle1tm1(KOMP)Wtsi Ankle1tm1.1(KOMP)Wtsi PMC4807109

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MGI Allele Allele Type Produced
Ankle1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Ankle1tm199114(L1L2_Pgk_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors

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