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:
Gnb2-rs1,  p205,  Gnb2l1,  GB-like

IMPC Data Collections

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

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.

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
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Short stature, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait s... ORPHA:241
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches, Short stature ORPHA:2435
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Short stature ORPHA:90023
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... OMIM:617294
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Growth delay, Silver-gray hair OMIM:257800
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Thumb Deformity And Alopecia
Short stature, Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Failure to thrive, Hypopigmentation of the skin, Abnormal fingernail morphology, Hyperpigmentatio... ORPHA:89838
Gemignani Syndrome
Hypopigmented skin patches, Delayed puberty, Short stature ORPHA:2074
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Short stature ORPHA:2786
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Hypermelanotic macule, Alopecia, M... ORPHA:79397
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin, Short stature OMIM:610798
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Hypopigmentation of the skin, Childhood-onset truncal obesity, D... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Hypopigmentation of the skin, Childhood-onset truncal obesity, D... ORPHA:71526
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair, Short stature ORPHA:1355
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Prader-Willi Syndrome Due To Imprinting Mutation
Short stature, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Obe... ORPHA:177910
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Albinism, Oculocutaneous, Type Vi
Abnormal hair morphology, Generalized hypopigmentation OMIM:113750
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, ... ORPHA:2251
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Hypermelanotic macule, N... ORPHA:79399
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Generalized hirsutism, Irregular hyperpigmentation, Short stature, G... ORPHA:1816
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... ORPHA:33445
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Short stature, Poliosis, Vitiligo, Abnormal eyela... ORPHA:3437
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Griscelli Syndrome Type 1
Partial albinism, Premature graying of hair, Iris hypopigmentation, White hair ORPHA:79476
Deafness-Vitiligo-Achalasia Syndrome
Severe short stature, Hypopigmented skin patches ORPHA:3239
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Failure to thrive, Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:261304
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Oculocerebral Hypopigmentation Syndrome Of Preus
Growth delay, Generalized hypopigmentation OMIM:257790
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity ORPHA:411515
Piebaldism
Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia iridis, Piebal... ORPHA:2884
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Multiple cafe-au-lait spots, Intrauterine growth retardation OMIM:609054
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Hyperpigmentation of the skin, Freckles in sun-exposed areas ORPHA:90342
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Growth delay, Short stature, Hypopigmentation of the skin, Hypopigmentation of hair, Cafe-au-lait... OMIM:618541
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... ORPHA:158681
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Hypotrichosis 8
Sparse scalp hair, Fair hair, Woolly hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Immunodeficiency 54
Failure to thrive, Short stature, Hyperpigmentation of the skin, Postnatal growth retardation, In... OMIM:609981
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Failure to thrive, Fair hair OMIM:269920
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Abnormality of hair texture, Nail dystrophy, Nail dysplasia OMIM:601957
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:352731
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Short stature, Hypopigmentation of hair, Iris hypop... ORPHA:999
Menkes Disease
Sparse hair, Brittle hair, Alopecia, Hypopigmentation of the skin, Short stature, Intrauterine gr... OMIM:309400
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Waardenburg Syndrome, Type 3
Blue irides, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Premature graying... OMIM:148820
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin, Low posterior hairline, Short stature ORPHA:261519
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation OMIM:261600
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Classic Phenylketonuria
Hypopigmentation of the skin, Growth delay, Hypopigmentation of hair ORPHA:79254
Focal Facial Dermal Dysplasia Type Iii
Sparse hair, Abnormal hair pattern, Sparse lateral eyebrow, Sparse lower eyelashes, Distichiasis,... ORPHA:1807
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Failure to thrive, Severe intrauterine growth retardation, Low anterior hairline, Postnatal growt... ORPHA:73272
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Naegeli-Franceschetti-Jadassohn Syndrome
Generalized reticulate brown pigmentation, Hypopigmentation of the skin, Fragile nails, Subungual... ORPHA:69087
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin, Abdominal obesity OMIM:615980
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Lichen Planus Pemphigoides
Abnormality of the nail, Hypopigmented streaks ORPHA:254478
Griscelli Syndrome Type 2
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79477
Griscelli Syndrome
Abnormal eyebrow morphology, Short stature, Silver-gray hair, Iris hypopigmentation, Abnormal eye... ORPHA:381
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Generalized hirsutism, Abnormality of skin pigmentation, Hypo... ORPHA:626
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity ORPHA:411511
Chronic Actinic Dermatitis
Hypopigmented skin patches, Progressive hyperpigmentation ORPHA:330064
Lichen Planopilaris
Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches, Alopecia ORPHA:525
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98795
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Generalized hypopigmentation, Short stature, Cachexia, Melan... ORPHA:1969
Waardenburg Syndrome, Type 4C
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613266
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... ORPHA:3214
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair OMIM:160980
Attenuated Chédiak-Higashi Syndrome
Ocular albinism, Generalized hypopigmentation ORPHA:352723
Autoimmune Polyendocrinopathy Type 2
Hypopigmented skin patches, Alopecia ORPHA:3143
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... ORPHA:3440
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Albinism, Ocular albinism OMIM:614075
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Short stature, Generalized hypopigmentation, Iris hypopigmentation, White hair ORPHA:2720
Angelman Syndrome
Hypopigmentation of the skin, Obesity, Fair hair, Blue irides OMIM:105830
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Generalized reticulate brown pigmentation, Alopecia, Hypopigmentation of the s... ORPHA:79396
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Failure to thrive, Brittle hair OMIM:236200
Bloom Syndrome
Growth delay, Hypertrichosis, Postnatal growth retardation, Small for gestational age, Hypopigmen... OMIM:210900
Waardenburg Syndrome, Type 2E
Ocular albinism, Blue irides, Iris hypopigmentation, White eyebrow, White eyelashes, Heterochromi... OMIM:611584
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity ORPHA:98794
Vici Syndrome
Hypopigmentation of the skin, Abnormality of retinal pigmentation, Short stature ORPHA:1493
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin, Growth delay, Short stature, Alopecia OMIM:163200
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Vici Syndrome
Failure to thrive, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albin... OMIM:242840
Porphyria, Congenital Erythropoietic
Hypertrichosis, Absent eyebrow, Alopecia, Hypopigmentation of the skin, Short stature, Hyperpigme... OMIM:263700
Waardenburg Syndrome, Type 1
Thick eyebrow, Blue irides, Partial albinism, White eyebrow, White eyelashes, Synophrys, Heteroch... OMIM:193500
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... ORPHA:79430
Alg3-Cdg
Hypopigmentation of the skin ORPHA:79321
Slc35A2-Cdg
Hypopigmentation of the skin, Intrauterine growth retardation, Failure to thrive in infancy, Shor... ORPHA:356961
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Intrauterine growth retardation, Failure to thrive in infancy OMIM:618156
Chediak-Higashi Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Silver-gray hair, Giant ... OMIM:214500
Prader-Willi Syndrome
Abdominal obesity, Generalized hypopigmentation, Hypopigmentation of the skin, Short stature, Fro... OMIM:176270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... ORPHA:177904
Trichohepatoenteric Syndrome 1
Failure to thrive, Intrauterine growth retardation, Woolly hair, Sparse hair, Brittle hair, Gener... OMIM:222470
Rothmund-Thomson Syndrome
Nail dysplasia, Reticular hyperpigmentation, Sparse hair, Sparse eyebrow, Sparse eyelashes, Hypop... ORPHA:2909
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... ORPHA:177901
Buschke-Ollendorff Syndrome
Short stature, Generalized hypopigmentation ORPHA:1306
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair, Obe... ORPHA:398079
Syndromic Diarrhea
Woolly hair, Brittle hair, Generalized hypopigmentation, Small for gestational age, Short stature... ORPHA:84064
Xeroderma Pigmentosum, Complementation Group C
Hypopigmentation of the skin OMIM:278720
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Prader-Willi-Like Syndrome
Failure to thrive, Small for gestational age, Hypopigmentation of the skin, Short stature, Hypopi... ORPHA:398073
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Short stature, Hypopigmentation of the skin, Hypopigmentati... ORPHA:398069
Bloom Syndrome
Abdominal obesity, Growth delay, Patchy alopecia, Sparse eyelashes, Hypopigmentation of the skin,... ORPHA:125
Pontocerebellar Hypoplasia, Type 7
Hypopigmentation of the skin, Hirsutism, Synophrys OMIM:614969
Rothmund-Thomson Syndrome Type 1
Nail dysplasia, Sparse hair, Small for gestational age, Hypopigmentation of the skin, Aplasia/Hyp... ORPHA:221008
Porphyria Variegata
Hypopigmentation of the skin, Hypertrichosis, Hyperpigmentation of the skin ORPHA:79473
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Delayed menarche, Iris hypopigmentation, Obesity ORPHA:72
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Hirsutism, Hypertrichosis, Hyperpigmentation of the skin ORPHA:101330
Rothmund-Thomson Syndrome Type 2
Nail dysplasia, Sparse hair, Small for gestational age, Hypopigmentation of the skin, Aplasia/Hyp... ORPHA:221016
Mosaic Trisomy 8
Hypopigmentation of the skin, Hypopigmented skin patches, Short stature ORPHA:96061
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Short stature, Hypopigmentation of the skin, Hypopigmentati... ORPHA:739
Mismatch Repair Cancer Syndrome 1
Hypopigmentation of the skin, Multiple cafe-au-lait spots, Axillary freckling OMIM:276300
Galloway-Mowat Syndrome 1
Short stature, Hypopigmentation of the skin, Small for gestational age, Intrauterine growth retar... OMIM:251300
Prader-Willi Syndrome Due To Translocation
Stellate iris, Short stature, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopi... ORPHA:177907
Hermansky-Pudlak Syndrome 2
Ocular albinism, Fair hair, Generalized hypopigmentation, Albinism, Aberrant melanosome maturation OMIM:608233
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism ORPHA:91411
Mucolipidosis Ii Alpha/Beta
Failure to thrive, Sparse hair, Brittle hair, Sparse eyebrow, Hypopigmentation of the skin, Sever... OMIM:252500
Eec Syndrome
Thick eyebrow, Sparse eyebrow, Generalized hypopigmentation, Short stature, Coarse hair, Fine hai... ORPHA:1896
Chédiak-Higashi Syndrome
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypo... ORPHA:167
Cystinosis, Nephropathic
Short stature, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Hypopigmentatio... OMIM:219800
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Alopecia, Short stature, Generalized hypopigmentation, Intrauterine growth ret... OMIM:619321
Hepatoerythropoietic Porphyria
Hypopigmentation of the skin, Facial hypertrichosis, Hyperpigmentation of the skin, Loss of eyela... ORPHA:95159
Degcags Syndrome
Abnormal eyebrow morphology, Hypertrichosis, Low anterior hairline, Failure to thrive, Small for ... OMIM:619488
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Fair hair, Postnatal growth retardation, Alopecia, Hypopigmentation of the skin, S... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Fair hair, Postnatal growth retardation, Alopecia, Hypopigmentation of the skin, S... ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Obesity, Synophrys OMIM:301066
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Fair hair, Blue irides, Sparse eyebrow, Facial hirsutism, Generalized hypopigm... OMIM:604292
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Failure to thrive, Intrauterine growth retardation, Decreased body weight, Thick eyebrow, Hypopig... OMIM:619475
Focal Dermal Hypoplasia
Nail dysplasia, Reticular hyperpigmentation, Sparse hair, Brittle hair, Supernumerary nipple, Hyp... OMIM:305600
Mosaic Trisomy 20
Intrauterine growth retardation, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin ORPHA:1724
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Nail dysplasia, Sparse scalp hair, Fair hair, Sparse hair, Blue irides, Sparse eyebrow, Generaliz... OMIM:129900
Congenital Erythropoietic Porphyria
Hypopigmentation of the skin, Facial hypertrichosis, Hyperpigmentation of the skin, Loss of eyela... ORPHA:79277
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Failure to thrive, Short stature, Generalized hypopigmentation, Fine hair, Del... ORPHA:534
Sarcoidosis
Hypopigmentation of the skin, Weight loss, Hyperpigmentation of the skin, Alopecia ORPHA:797
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Hypopigmentation of the skin, Trichiasis, Anonychia, Hyperpigmentation of the skin, Nail dystrophy ORPHA:95455
Pallister-Killian Syndrome
Sparse scalp hair, Growth delay, Sparse hair, Sparse eyebrow, Alopecia, Hypopigmentation of the s... OMIM:601803
Sotos Syndrome
Hypopigmentation of the skin, Sparse anterior scalp hair, Hyperpigmentation of the skin, Small nail 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.

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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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