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Gene: D430041D05Rik MGI:2181743

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Gene Summary

Name:
RIKEN cDNA D430041D05 gene
Synonyms:
G2

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
increased total body fat amount D430041D05Riktm1a(EUCOMM)Hmgu HOM Early adult 4.61×10-05
increased lean body mass D430041D05Riktm1a(EUCOMM)Hmgu HOM Early adult 1.68×10-07
abnormal coat/hair pigmentation D430041D05Riktm1a(EUCOMM)Hmgu HOM Early adult 3.51×10-05
abnormal vocalization D430041D05Riktm1a(EUCOMM)Hmgu HOM Early adult 1.79×10-05
increased bone mineral content D430041D05Riktm1a(EUCOMM)Hmgu HOM Early adult 9.02×10-05

Download data as:  TSV  XLS

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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 D430041D05Rik 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 D430041D05Rik by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Coarse metaphyseal trabecularization, Macular hyperpigmented dermopathy ORPHA:2779
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Osteoporosis, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red ha... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red ha... ORPHA:71526
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Obesity And Hypopigmentation
Red hair, Obesity OMIM:620195
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Acquired Hypertrichosis Lanuginosa
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair ORPHA:2221
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Obesity, Blue irides, Red hair, Advanced ossification of carpal bones OMIM:614613
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Failure to thrive, Premature graying of hair ORPHA:100
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot OMIM:618541
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair ORPHA:79477
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive ORPHA:70472
Muenke Syndrome
Coronal craniosynostosis, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin pat... ORPHA:53271
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Squalene Synthase Deficiency
Failure to thrive in infancy, Knee flexion contracture, Abnormality of hair pigmentation, Elbow f... OMIM:618156
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Generalized h... ORPHA:3322
Brittle Cornea Syndrome 1
Red hair, Atypical scarring of skin, Dentinogenesis imperfecta OMIM:229200
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Failure to thrive, Breast apla... ORPHA:238468
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Hernia, Camptodactyly, Osteoporosis ORPHA:90354
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411511
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Obesity OMIM:609734
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Abdominal obesity, Osteopor... ORPHA:398079
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Obesity, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:98794
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Increased body weight, Abdominal obe... ORPHA:398069
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Abnormal ... ORPHA:79430
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... ORPHA:98793
Syndromic Diarrhea
Trichorrhexis nodosa, Inguinal hernia, Uncombable hair, Generalized hypopigmentation, Brittle hai... ORPHA:84064
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Osteopenia, Hypopigmentation of the skin, Failure to thrive, Obesity, Oste... ORPHA:177901
Menkes Disease
Sparse hair, Atypical scarring of skin, Chondrocalcinosis, Umbilical hernia, Inguinal hernia, Her... ORPHA:565
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel... OMIM:214500
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair, Abnormal dental enamel morphology ORPHA:96169
Prader-Willi Syndrome
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Abdominal obesity, Osteoporosis, Hyp... ORPHA:739
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia... ORPHA:163746
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Inguinal hernia, Ocular albinism ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Hyperpigmentation of the skin, Stel... ORPHA:177907
Degcags Syndrome
Osteopenia, Hypopigmentation of the skin, Failure to thrive, Premature graying of hair, Hypertric... OMIM:619488
Vici Syndrome
Hypopigmentation of the skin, Failure to thrive, Ocular albinism, Albinism, Hypopigmentation of hair OMIM:242840
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi... ORPHA:167
Cystinosis, Nephropathic
Pigmentary retinopathy, Hypopigmentation of the skin, Rickets, Failure to thrive, Retinal pigment... OMIM:219800
Smith-Lemli-Opitz Syndrome
Abnormal dental enamel morphology, Abnormal eyelash morphology, Hypopigmentation of hair, Congeni... ORPHA:818

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 D430041D05Rik

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 D430041D05Rik.

No publications found that use IMPC mice or data for D430041D05Rik.

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
D430041D05Riktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
D430041D05Riktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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