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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
abnormal vocalization D430041D05Riktm1a(EUCOMM)Hmgu HOM Early adult 1.79×10-05
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
increased bone mineral content D430041D05Riktm1a(EUCOMM)Hmgu HOM Early adult 9.02×10-05
increased total body fat amount D430041D05Riktm1a(EUCOMM)Hmgu HOM Early adult 4.30×10-05

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
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Coarse metaphyseal trabecularization, Macular hyperpigmented dermopathy ORPHA:2779
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Woolly Hair
Sparse body hair, Fine hair, Brittle hair, Abnormality of hair texture, Sparse lateral eyebrow, S... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:606952
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Albinism ORPHA:2786
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... OMIM:193510
Albinism, Oculocutaneous, Type Ii
Blue irides, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentat... OMIM:203200
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hypopigmentation of the skin, Red hair, Increased adipose tissue, Childhood-on... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hypopigmentation of the skin, Red hair, Increased adipose tissue, Childhood-on... ORPHA:71526
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Woolly Hair Nevus
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... ORPHA:79414
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:256710
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Generalized hypopigmentation of hair, White eyelas... ORPHA:79433
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal ey... ORPHA:2885
Obesity And Hypopigmentation
Red hair, Obesity OMIM:620195
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Abnormality of retinal pigment... ORPHA:897
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:277580
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity ORPHA:177910
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... ORPHA:894
Piebaldism
Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of hair, Whi... ORPHA:2884
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Albinism, White hair, Abnormality of retinal pigmentation, Hypopigmentatio... ORPHA:79435
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Hypopigmentation of hair, Generalized hirsutism, Weight loss ORPHA:2221
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow morphology, P... ORPHA:3437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Oculocutaneous Albinism
Iris hypopigmentation, Generalized hypopigmentation, Generalized hypopigmentation of hair, White ... ORPHA:55
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity ORPHA:411515
Piebald Trait
Piebaldism, Partial albinism, Absent pigmentation of the ventral chest, White forelock, Heterochr... OMIM:172800
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Advanced ossification of carpal bones, Red hair, Fair hair, Obesity OMIM:614613
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:614072
Oculocutaneous Albinism Type 2
Blue irides, Freckling, Iris hypopigmentation, Iris transillumination defect, White eyebrow, Whit... ORPHA:79432
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Oculocutaneous Albinism Type 1
Blue irides, Iris hypopigmentation, Generalized hypopigmentation, Iris transillumination defect, ... ORPHA:352731
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair, Failure to thrive ORPHA:100
Oculocutaneous Albinism Type 1B
Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Hypopigmentation of hair, Osteopetrosis, Cafe-au-lait spot OMIM:618541
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Failure to thrive ORPHA:70472
Muenke Syndrome
Hypopigmentation of hair, Coronal craniosynostosis, Hypermelanotic macule, Hypopigmented skin pat... ORPHA:53271
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Squalene Synthase Deficiency
Failure to thrive in infancy, Knee flexion contracture, Elbow flexion contracture, Abnormality of... OMIM:618156
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Hypopigmentation ... ORPHA:999
Oculocutaneous Albinism Type 1A
Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin, Hypopigmentation of hai... ORPHA:79431
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmented skin patches, Premature graying of hair, Synophrys, He... ORPHA:3440
Albinism, Oculocutaneous, Type Ia
Blue irides, Albinism, White hair, Hypopigmentation of hair, Ocular albinism, Absent skin pigment... OMIM:203100
Carney Complex, Type 1
Multiple lentigines, Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions OMIM:160980
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Failure to thrive, Nail dystrophy, Generalized hypopigmentation of hai... ORPHA:3322
Hermansky-Pudlak Syndrome 1
Freckling, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentatio... OMIM:203300
Brittle Cornea Syndrome 1
Red hair, Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Hypopi... ORPHA:3214
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Irregular hyperpigmentation, Trichorrhexis nodosa, Abnormality of the nai... ORPHA:238468
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Brittle Cornea Syndrome
Camptodactyly, Corneal scarring, Osteoporosis, Hernia, Abnormality of hair pigmentation ORPHA:90354
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity ORPHA:411511
Waardenburg Syndrome, Type 4C
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... 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
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98795
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of ha... ORPHA:398079
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obesity ORPHA:98794
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of ha... ORPHA:398069
Prader-Willi Syndrome
Iris hypopigmentation, Generalized hypopigmentation, Failure to thrive in infancy, Osteoporosis, ... OMIM:176270
Hermansky-Pudlak Syndrome
Long eyelashes, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Pa... ORPHA:79430
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small for gestational age, Iris hypopigmentation, Osteoporosis, Osteopenia, Failure to thrive, Hy... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small for gestational age, Iris hypopigmentation, Osteoporosis, Osteopenia, Failure to thrive, Hy... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small for gestational age, Iris hypopigmentation, Osteoporosis, Osteopenia, Failure to thrive, Hy... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small for gestational age, Iris hypopigmentation, Osteoporosis, Osteopenia, Failure to thrive, Hy... ORPHA:177901
Syndromic Diarrhea
Small for gestational age, Inguinal hernia, Generalized hypopigmentation, Uncombable hair, Tricho... ORPHA:84064
Menkes Disease
Chondrocalcinosis, Inguinal hernia, Umbilical hernia, Osteoporosis, Hypopigmentation of hair, Woo... ORPHA:565
Chediak-Higashi Syndrome
Iris hypopigmentation, Giant melanosomes in melanocytes, Hypopigmentation of the skin, Hypopigmen... OMIM:214500
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture ORPHA:96169
Prader-Willi-Like Syndrome
Small for gestational age, Iris hypopigmentation, Osteoporosis, Osteopenia, Failure to thrive, Hy... ORPHA:398073
Prader-Willi Syndrome
Osteoporosis, Osteopenia, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of ha... ORPHA:739
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmentat... ORPHA:163746
Oculocerebral Hypopigmentation Syndrome, Cross Type
Inguinal hernia, Hypopigmentation of hair, Iris hypopigmentation, Ocular albinism ORPHA:2719
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Stellate iris, Hyperpigmentation of the skin, Hypopigmentation of hair, Hy... ORPHA:177907
Degcags Syndrome
Craniosynostosis, Small for gestational age, Long eyelashes, Abnormal eyelash morphology, Abnorma... OMIM:619488
Vici Syndrome
Albinism, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair, Ocular albinism OMIM:242840
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair ORPHA:1974
Chédiak-Higashi Syndrome
Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... ORPHA:167
Cystinosis, Nephropathic
Rickets, Failure to thrive in infancy, Pigmentary retinopathy, Retinal pigment epithelial mottlin... OMIM:219800
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Blue irides, Red hair, Fair hair, Obesity ORPHA:280651
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Congenital diaphragmatic hernia, Abnormal eyelash morphology, Abnormal ... 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.

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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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