Gene Summary

Name:
charged multivesicular body protein 7
Synonyms:
4930596K11Rik,  CHMP family, member 7,  6330407G04Rik

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
preweaning lethality, complete penetrance Chmp7em1(IMPC)J HOM   Early adult 0.00
abnormal embryo size Chmp7em1(IMPC)J HOM E12.5 0.00
abnormal embryo size Chmp7em1(IMPC)J HET E18.5 0.00
embryonic lethality prior to tooth bud stage Chmp7em1(IMPC)J HOM   E12.5 0.00
abnormal coat/hair pigmentation Chmp7em1(IMPC)J HET Late adult 5.31×10-07

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.

Eye Morphology

Images Ophthalmoscopy

6 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Chmp7 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 Chmp7 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
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
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen 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
Albinism, Red hair, Partial albinism OMIM:203290
Book Syndrome
Premature graying of hair OMIM:112300
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Patchy alopecia, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia, White hair ORPHA:1410
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Hypopigmentation of th... ORPHA:42665
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
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
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Alopecia, Congenital
Sparse hair, Alopecia 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 of scalp, Alopecia ORPHA:700
Ermine Phenotype
White eyebrow, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White hair OMIM:227010
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
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
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Uncombable Hair Syndrome 3
Curly hair, Uncombable hair, Pili canaliculi OMIM:617252
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613265
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Woolly Hair, Autosomal Dominant
Coarse hair, Woolly hair, Abnormal hair morphology, Slow-growing hair, Dry hair OMIM:194300
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Oculocutaneous Albinism Type 3
White eyebrow, Hypopigmentation of the skin, Blue irides, White eyelashes, Freckling, Iris hypopi... ORPHA:79433
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles in sun-ex... OMIM:203200
Albinism-Deafness Syndrome
Patchy hypo- and hyperpigmentation, Albinism, Piebaldism, Partial albinism OMIM:300700
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Abnormal eyelash morp... ORPHA:2885
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, White forelock, Numerous pigmented freckles OMIM:601706
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:277580
Piebald Trait
Heterochromia iridis, Absent pigmentation of the ventral chest, White forelock, Partial albinism,... OMIM:172800
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hy... ORPHA:33445
Albinism-Deafness Syndrome
Heterochromia iridis, Hypopigmented skin patches, Partial albinism, Irregular hyperpigmentation, ... ORPHA:998
Waardenburg-Shah Syndrome
White eyebrow, Premature graying of hair, Hypopigmentation of hair, Abnormality of retinal pigmen... ORPHA:897
Sabinas Brittle Hair Syndrome
Brittle hair, Nail dysplasia, Nail dystrophy, Sparse hair, Dry hair OMIM:211390
Piebaldism
White eyebrow, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, White ... ORPHA:2884
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
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
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
Oculocutaneous Albinism
White eyebrow, Hypopigmentation of hair, Hypopigmentation of the skin, White eyelashes, Ocular al... ORPHA:55
Griscelli Syndrome Type 1
Premature graying of hair, Iris hypopigmentation, White hair, Partial albinism ORPHA:79476
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
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
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Albi... ORPHA:79434
Oculocutaneous Albinism Type 1
White eyebrow, Blue irides, White eyelashes, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
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
Ermine Phenotype
Hypopigmentation of hair, Hypopigmented skin patches, Ocular albinism, Iris hypopigmentation, Irr... ORPHA:999
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Blue irides, White hair, Ocular albinism, Absent skin pigment... OMIM:203100
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Ocular albinism, Freckling, Iri... ORPHA:79431
Carney Complex, Type 1
Profuse pigmented skin lesions, Freckling, Multiple lentigines, Hirsutism, 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
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:613266
Waardenburg Syndrome
Premature graying of hair, Hypopigmentation of hair, Abnormality of skin pigmentation, Heterochro... ORPHA:3440
Ataxia-Telangiectasia
Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair ORPHA:100
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
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
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 ORPHA:70472
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, White... OMIM:611584
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Hypohidrotic Ectodermal Dysplasia
Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Trichorrhexis nodo... ORPHA:238468
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hypopigmentation of hai... ORPHA:3322
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Chediak-Higashi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Silver-gray hair, Ocular albinism, Giant ... OMIM:214500
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
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
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:163746
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Frontal upsweep of hair, Generalized hypo... OMIM:176270
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Autosomal Recessive Faciodigitogenital Syndrome
Widow's peak, Hypopigmentation of hair, Dry hair, Coarse hair ORPHA:1974
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation ORPHA:2719
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Ch├ędiak-Higashi Syndrome
Hypopigmentation of hair, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Larg... 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, 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 Chmp7

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 Chmp7.

No publications found that use IMPC mice or data for Chmp7.

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MGI Allele Allele Type Produced
Chmp7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chmp7tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Chmp7em1(IMPC)J Exon Deletion Mice

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