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Gene: Rack1 MGI:101849

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
receptor for activated C kinase 1
Synonyms:
p205,  Gnb2-rs1,  Gnb2l1,  GB-like

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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.

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 Rack1 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 Rack1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Dyschromatosis Universalis Hereditaria
Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip... ORPHA:241
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Short stature, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Short stature ORPHA:90023
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Oculocerebral Syndrome With Hypopigmentation
Growth delay, Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Thumb Deformity And Alopecia
Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... ORPHA:89838
Gemignani Syndrome
Short stature, Hypopigmented skin patches, Delayed puberty ORPHA:2074
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Short stature, Albinism ORPHA:2786
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange, Short stature, Decreased body ... OMIM:618097
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Growth delay, Delayed puberty, Red hair, Failure to thrive, Hypopigmentation of the skin... ORPHA:71526
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Short stature, Obesity, Hypopigmentation of the skin, Iris hypopigmenta... ORPHA:177910
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature ORPHA:1355
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Fanconi Anemia, Complementation Group J
Multiple cafe-au-lait spots, Intrauterine growth retardation, Postnatal growth retardation, Chrom... OMIM:609054
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Hypopigmented skin patches, Ridged fingernail, Fingernail dysplas... ORPHA:2251
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Hypopigmentation of hair, Alopecia, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Short stature, Delayed puberty, Generalized hypopigmentation, Irregu... ORPHA:1816
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol... ORPHA:3437
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Abnormality of chromosome stability, Growth delay OMIM:614082
Immunodeficiency 54
Chromosome breakage, Short stature, Postnatal growth retardation, Intrauterine growth retardation... OMIM:609981
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Hypopigmented skin patches ORPHA:3239
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Intrauterine growth retardation, Failure to thrive, Hypopigmentation of the skin, Ap... ORPHA:261304
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411515
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth retardation, Cafe-au-l... OMIM:618541
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Ataxia-Telangiectasia
Hypopigmentation of hair, Abnormality of chromosome stability, Short stature, Premature graying o... ORPHA:100
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... ORPHA:158681
Infantile Sialic Acid Storage Disease
Failure to thrive, Fair hair, Hypopigmentation of the skin OMIM:269920
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Obesity And Hypopigmentation
Red hair, Obesity OMIM:620195
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Ermine Phenotype
Hypopigmentation of hair, Short stature, Ocular albinism, Hypopigmented skin patches, Irregular h... ORPHA:999
Menkes Disease
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation, Hypopigmenta... OMIM:309400
Waardenburg Syndrome, Type 3
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... OMIM:148820
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin, Short stature, Low posterior hairline ORPHA:261519
Classic Phenylketonuria
Growth delay, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Phenylketonuria
Generalized hypopigmentation, Fair hair, Blue irides OMIM:261600
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,... ORPHA:1807
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:897
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Postnatal gr... OMIM:210900
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hypopigmentation of the skin OMIM:615980
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... ORPHA:69087
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin, Defective DNA repair after ultraviolet radiation damage OMIM:278720
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:411511
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Griscelli Syndrome
Abnormal eyebrow morphology, Short stature, Abnormal eyelash morphology, Silver-gray hair, White ... ORPHA:381
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:525
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Generalized hypopigmentation, Short stature, Iris transillumination defect, Decreased body weight OMIM:617306
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Revesz Syndrome
Abnormality of chromosome stability, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauter... OMIM:268130
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Cafe-au-lait spot, Chromosomal breakage induced by crosslinking agents OMIM:610832
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Short stature, Cachexia, Melanocytic nevus, Multiple cafe-au... ORPHA:1969
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypopigmented skin patches ORPHA:3143
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Brittle hair, Hypopigmentation of the skin OMIM:236200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... ORPHA:79396
Oculocerebral Hypopigmentation Syndrome, Preus Type
Short stature, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Obesity, Blue irides OMIM:105830
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation ORPHA:98794
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Alopecia, Hypopigmentation of the skin, Short stature OMIM:163200
Vici Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Short stature ORPHA:1493
Slc35A2-Cdg
Intrauterine growth retardation, Hypopigmentation of the skin, Failure to thrive in infancy, Shor... ORPHA:356961
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Weight loss, Long... ORPHA:79430
Alg3-Cdg
Hypopigmentation of the skin ORPHA:79321
Squalene Synthase Deficiency
Intrauterine growth retardation, Failure to thrive in infancy, Abnormality of hair pigmentation OMIM:618156
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Obesity, Abdominal obesity... OMIM:176270
Rothmund-Thomson Syndrome
Short stature, Sparse eyelashes, Alopecia totalis, Small for gestational age, Sparse eyebrow, Ret... ORPHA:2909
Trichohepatoenteric Syndrome 1
Curly hair, Failure to thrive, Brittle hair, Short stature, Small for gestational age, Woolly hai... OMIM:222470
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Short stature, Small for gestational age, Obesity, Delayed puberty, Fai... ORPHA:98754
Acute Radiation Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Hypopigmentation of the skin, Hyperpi... OMIM:263700
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Short stature, Small for gestational age, Obesity, Delayed puberty, Fai... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Short stature, Small for gestational age, Obesity, Delayed puberty, Fai... ORPHA:177904
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... OMIM:614077
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Obesity, Abdominal obesity, Failure to thrive, Hypopigmentation of the ... ORPHA:398079
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Short stature, Small for gestational age, Obesity, Delayed puberty, Fai... ORPHA:177901
Bloom Syndrome
Sparse eyelashes, Small for gestational age, Paronychia, Growth delay, Severe postnatal growth re... ORPHA:125
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Short stature, Small for gestational age, Woolly hair, Un... ORPHA:84064
Angelman Syndrome
Obesity, Delayed menarche, Fair hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:72
Porphyria Variegata
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis ORPHA:79473
Rothmund-Thomson Syndrome Type 1
Short stature, Alopecia totalis, Small for gestational age, Growth delay, Sparse or absent eyelas... ORPHA:221008
Pontocerebellar Hypoplasia, Type 7
Synophrys, Hypopigmentation of the skin, Hirsutism OMIM:614969
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Short stature, Increased body weight, Abdominal obesity, Failure to thr... ORPHA:398069
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis ORPHA:101330
Rothmund-Thomson Syndrome Type 2
Short stature, Alopecia totalis, Small for gestational age, Growth delay, Sparse or absent eyelas... ORPHA:221016
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Mosaic Trisomy 8
Hypopigmentation of the skin, Hypopigmented skin patches, Short stature ORPHA:96061
Vici Syndrome
Hypopigmentation of hair, Albinism, Postnatal growth retardation, Ocular albinism, Failure to thr... OMIM:242840
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Short stature, Obesity, Intrauterine growth retardation, Stellate iris,... ORPHA:177907
Galloway-Mowat Syndrome 1
Small for gestational age, Short stature, Small nail, Intrauterine growth retardation, Hypopigmen... OMIM:251300
Prader-Willi Syndrome
Hypopigmentation of hair, Short stature, Abdominal obesity, Failure to thrive, Hypopigmentation o... ORPHA:739
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin OMIM:276300
Congenital Ptosis
Cafe-au-lait spot, Piebaldism, Long eyelashes ORPHA:91411
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair OMIM:608233
Mucolipidosis Ii Alpha/Beta
Brittle hair, Sparse eyebrow, Growth delay, Severe postnatal growth retardation, Sparse hair, Fai... OMIM:252500
Cystinosis, Nephropathic
Hypopigmentation of hair, Short stature, Failure to thrive in infancy, Retinal pigment epithelial... OMIM:219800
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Eec Syndrome
Short stature, Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrop... ORPHA:1896
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Slender build, Small for gestational age, Postnatal growth retardation, Cafe-au-lait sp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Slender build, Small for gestational age, Postnatal growth retardation, Cafe-au-lait sp... ORPHA:363958
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Short stature, Abdominal obesity, Generalized hypopigmentation, Intrauterine growth ret... OMIM:619321
Hepatoerythropoietic Porphyria
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... ORPHA:95159
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Abnormal eyelas... OMIM:619488
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Synophrys, Hypopigmentation of the skin, Obesity OMIM:301066
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... OMIM:604292
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad eyebrow, Failure to thrive, Overweight, Synophrys, Obesity, Melanocytic nevus, Abnormality ... OMIM:619475
Mosaic Trisomy 20
Intrauterine growth retardation, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin ORPHA:1724
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... OMIM:129900
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Short stature, Supernumerary nipple, Reticul... OMIM:305600
Congenital Erythropoietic Porphyria
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... ORPHA:79277
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Short stature, Fine hair, Delayed puberty, Generalized hypopigmentation, Failu... ORPHA:534
Sarcoidosis
Alopecia, Hypopigmentation of the skin, Hyperpigmentation of the skin, Weight loss ORPHA:797
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Trichiasis, Nail dystrophy, Anonychia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:95455
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Rhizomelia, Sparse eyelashes, Supernumerary nipple, Mesomelic/rhizom... OMIM:601803
Sotos Syndrome
Sparse anterior scalp hair, Small nail, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:821

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 Rack1

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 Rack1.

No publications found that use IMPC mice or data for Rack1.

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
Rack1tm436724(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rack1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rack1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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