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Gene: Ddx59 MGI:1915247

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Gene Summary

Name:
DEAD box helicase 59
Synonyms:
1210002B07Rik,  DEAD (Asp-Glu-Ala-Asp) box polypeptide 59,  4833411G06Rik

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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 coat/hair pigmentation Ddx59em1(IMPC)J HET Early adult 3.64×10-14
preweaning lethality, complete penetrance Ddx59em1(IMPC)J HOM   Early adult 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 Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral 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 Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 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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PDF thumbnail PDF
Electroretinography 2

Rod and cone PDF

4 Images

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Human diseases caused by Ddx59 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 Ddx59 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Orofaciodigital Syndrome V
OMIM:174300
Orofaciodigital Syndrome Type 5
ORPHA:2919

The table below shows human diseases predicted to be associated to Ddx59 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
White hair, Abnormal hair morphology 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
Loose anagen hair, Sparse hair, Fair 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
Partial albinism, Albinism, Red hair OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Alopecia, Congenital
Alopecia, Sparse hair 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, Alopecia of scalp ORPHA:700
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
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
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:613265
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:607624
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... OMIM:193510
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome Type 2
Hypopigmented skin patches, White forelock, Heterochromia iridis, Hypopigmentation of hair, Prema... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Albinism-Deafness Syndrome
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism OMIM:300700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Irregular hyperpig... ORPHA:2885
Elejalde Disease
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:256710
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, White eyelashes, Heterochromia iridis, White forelock, W... OMIM:277580
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Premature graying of hair, Generalized hy... ORPHA:33445
Albinism-Deafness Syndrome
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... ORPHA:998
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, White eyelashes, White forelock... ORPHA:897
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... ORPHA:3437
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Abnormal hair morphology, White hair, White eyelashes, Heterochromia ... ORPHA:894
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Griscelli Syndrome Type 1
White hair, Partial albinism, Iris hypopigmentation, Premature graying of hair ORPHA:79476
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177910
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Freckling, Albinism, Hypopigmentation of the skin, Melanocyt... ORPHA:79434
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris transillumination defect, Generalized hypopigment... ORPHA:352731
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Ermine Phenotype
Hypopigmented skin patches, Ocular albinism, Irregular hyperpigmentation, Iris hypopigmentation, ... ORPHA:999
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411515
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Hypopigmentation of the skin, Albinism, Iris hypopigmentation, Hypopi... ORPHA:79431
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... OMIM:203100
Carney Complex, Type 1
Hirsutism, Freckling, Profuse pigmented skin lesions, Multiple lentigines, Red hair OMIM:160980
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
Griscelli Syndrome Type 2
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Premature graying of hair ORPHA:79477
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, White eyelashes, White forelock, Heterochromia iridis, W... OMIM:613266
Waardenburg Syndrome
Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal eyebrow morphology, Hetero... ORPHA:3440
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Fair hair, Red hair OMIM:614613
Ataxia-Telangiectasia
Hypopigmentation of hair, Premature graying of hair, Multiple cafe-au-lait spots ORPHA:100
Muenke Syndrome
Hypopigmented skin patches, Hypopigmentation of hair, Hypermelanotic macule ORPHA:53271
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Freckling, Hyperpigmentation of the skin, Iris hypopigmentation, Mult... ORPHA:3214
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98795
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Hypohidrotic Ectodermal Dysplasia
Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis nodosa, Irregular hyperpigmen... ORPHA:238468
Hoyeraal-Hreidarsson Syndrome
Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of hair, Sparse scalp... ORPHA:3322
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:411511
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Chediak-Higashi Syndrome
Silver-gray hair, Ocular albinism, Hypopigmentation of the skin, Iris hypopigmentation, Hypopigme... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98794
Hermansky-Pudlak Syndrome
Partial albinism, Ocular albinism, Long eyelashes, Hypopigmentation of the skin, Melanocytic nevu... ORPHA:79430
Vici Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism OMIM:242840
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Syndromic Diarrhea
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Hypopigmentation of hair, Gener... ORPHA:84064
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochromia iridis, Hypopigmentation o... ORPHA:163746
Prader-Willi Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Frontal upsweep of... OMIM:176270
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Widow's peak, Dry hair, Coarse hair ORPHA:1974
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism ORPHA:2719
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Iris... 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, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:177901
Prader-Willi Syndrome Due To Translocation
Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of the skin, Iris hypopigmentation... ORPHA:177907
Prader-Willi-Like Syndrome
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin ORPHA:398073
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Menkes Disease
Hypopigmentation of hair, Sparse hair, Woolly hair ORPHA:565
Degcags Syndrome
Hypertrichosis, Low anterior hairline, Abnormality of skin pigmentation, Long eyelashes, Abnormal... OMIM:619488
Acrodysostosis With Multiple Hormone Resistance
Blue irides, Fair hair, Red hair ORPHA:280651
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Pigm... OMIM:219800
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Abnormal eyelash morphology ORPHA:818
Orofaciodigital Syndrome Type 5
ORPHA:2919
Orofaciodigital Syndrome V
OMIM:174300

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 Ddx59

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 Ddx59.

No publications found that use IMPC mice or data for Ddx59.

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MGI Allele Allele Type Produced
Ddx59tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ddx59em1(IMPC)J Indel Mice

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