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Gene: Yap1 MGI:103262

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Gene Summary

Name:
yes-associated protein 1
Synonyms:
Yki,  yorkie,  Yap

Order Alleles

IMPC Data Collections

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
preweaning lethality, complete penetrance Yap1tm1b(KOMP)Mbp HOM   Early adult 0.00

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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 Yap1 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.

The table below shows human diseases associated to Yap1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433

The table below shows human diseases predicted to be associated to Yap1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Cataract OMIM:615995
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... OMIM:617638
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent... OMIM:204200
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea OMIM:615767
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Cerebral atrophy... OMIM:616171
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Immunodeficiency 76
Chronic diarrhea, Colitis, Recurrent pneumonia OMIM:619164
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Immunodeficiency 70
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia OMIM:618969
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... OMIM:619281
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... OMIM:204000
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne OMIM:604416
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract ORPHA:324416
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... OMIM:618108
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease OMIM:618394
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma, Cataract OMIM:601794
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Retinal coloboma, Cataract ORPHA:363741
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract ORPHA:250984
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Trichohepatoenteric Syndrome 2
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis OMIM:614602
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Intermediate Uveitis
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... ORPHA:279914
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Cataract OMIM:614307
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... OMIM:243150
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... OMIM:616433
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... OMIM:615986
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, E... OMIM:616050
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... ORPHA:67043
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystro... OMIM:612674
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... OMIM:301074
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... ORPHA:436159
Achondrogenesis Type 2
Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract ORPHA:93296
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... OMIM:614700
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal audi... OMIM:619260
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po... ORPHA:280921
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract ORPHA:627
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... OMIM:221900
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... ORPHA:37042
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... ORPHA:911
Shigellosis
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, B... ORPHA:810
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Cataract, Decreased sensory nerve conduction velocity, O... OMIM:609033
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration, Cataract OMIM:619780
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Dyskeratosis Congenita, Autosomal Recessive 8
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture OMIM:620133
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... ORPHA:2686
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... ORPHA:324964
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... OMIM:618935
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia OMIM:618999
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract OMIM:613763
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Immunodeficiency 97 With Autoinflammation
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... ORPHA:98813
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia OMIM:301220
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma ORPHA:2791
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma OMIM:610125
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... ORPHA:90038
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... ORPHA:540
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... OMIM:619381
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux OMIM:201475
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Frontal cortic... ORPHA:2714
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... OMIM:617718
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix OMIM:614576
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Optic atrophy, Pigmentary reti... OMIM:610651
Sepsis In Premature Infants
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... ORPHA:90051
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... ORPHA:544482
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... OMIM:615895
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, He... ORPHA:391487
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... ORPHA:3260
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... ORPHA:99867
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... OMIM:618213
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... ORPHA:707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammat... ORPHA:79259
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Syndromic Diarrhea
Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Colitis, Intractable diarrhea, Depen... ORPHA:84064
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... ORPHA:3261
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C... ORPHA:171
Autosomal Dominant Optic Atrophy And Cataract
Cerebellar atrophy, Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulea... ORPHA:67036
Glycogen Storage Disease Ib
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... OMIM:232220
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... ORPHA:906
Wiskott-Aldrich Syndrome
Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... OMIM:301000
Glycogen Storage Disease Ic
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... OMIM:232240
Fumarase Deficiency
Necrotizing enterocolitis, Hepatic failure, High palate OMIM:606812
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,... OMIM:619573
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,... OMIM:181000
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99413
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:881
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... ORPHA:99226
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Mowat-Wilson Syndrome
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... ORPHA:2152

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 Yap1

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 Yap1.

There are 25 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Mechanisms of cellular crosstalk in the gastric tumor microenvironment are mediated by YAP1 and STAT3. Life science alliance (November 2023) Yap1tm1a(KOMP)Mbp PMC10643184
Emergent mechanical control of vascular morphogenesis. Science advances (August 2023) Yap1tm1c(KOMP)Mbp PMC10421067
Endothelial FAT1 inhibits angiogenesis by controlling YAP/TAZ protein degradation via E3 ligase MIB2. Nature communications (April 2023) Yap1tm1c(KOMP)Mbp PMC10082778
Hippo-TAZ signaling is the master regulator of the onset of triple-negative basal-like breast cancers. Proceedings of the National Academy of Sciences of the United States of America (July 2022) Yap1tm1c(KOMP)Mbp PMC9303858
Liver regeneration and ethanol detoxification: A new link in YAP regulation of ALDH1A1 during alcohol-related hepatocyte damage. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (April 2022) Yap1tm1a(KOMP)Mbp PMC9126254
Hepatocyte-Specific Deletion of Yes-Associated Protein Improves Recovery From Acetaminophen-Induced Acute Liver Injury. Toxicological sciences : an official journal of the Society of Toxicology (November 2021) Yap1tm1c(KOMP)Mbp 34546377
Myofibroblast YAP/TAZ is dispensable for liver fibrosis in mice. Journal of hepatology (March 2021) Yap1tm1c(KOMP)Mbp 33675873
YAP/TAZ Are Required to Suppress Osteogenic Differentiation of Vascular Smooth Muscle Cells. iScience (November 2020) Yap1tm1c(KOMP)Mbp PMC7726335
Control of skeletal morphogenesis by the Hippo-YAP/TAZ pathway. Development (Cambridge, England) (November 2020) Yap1tm1c(KOMP)Mbp PMC7673359
YAP and TAZ protect against white adipocyte cell death during obesity. Nature communications (October 2020) Yap1tm1a(KOMP)Mbp PMC7595161
Endogenous YAP1 activation drives immediate onset of cervical carcinoma in situ in mice. Cancer science (August 2020) Yap1tm1c(KOMP)Mbp PMC7541006
Cooperation Between MYC and β-Catenin in Liver Tumorigenesis Requires Yap/Taz. Hepatology (Baltimore, Md.) (July 2020) Yap1tm1c(KOMP)Mbp 31965581
YAP1/TAZ drives ependymoma-like tumour formation in mice. Nature communications (May 2020) Yap1tm1c(KOMP)Mbp PMC7220953
Yap1 is required for maintenance of adult RPE differentiation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (March 2020) Yap1tm1a(KOMP)Mbp 32223016
YAP1 is a potent driver of the onset and progression of oral squamous cell carcinoma. Science advances (March 2020) Yap1tm1c(KOMP)Mbp PMC7080500
Targeting downstream subcellular YAP activity as a function of matrix stiffness with Verteporfin-encapsulated chitosan microsphere attenuates osteoarthritis. Biomaterials (December 2019) Yap1tm1c(KOMP)Mbp 31918221
YAP, but Not RSPO-LGR4/5, Signaling in Biliary Epithelial Cells Promotes a Ductular Reaction in Response to Liver Injury. Cell stem cell (May 2019) Yap1tm1a(KOMP)Mbp 31080135
Ocular phenotypic consequences of a single copy deletion of the Yap1 gene (Yap1 +/-) in mice. Molecular vision (February 2019) Yap1tm1a(KOMP)Mbp PMC6382475
YAP and TAZ are dispensable for physiological and malignant haematopoiesis. Leukemia (March 2018) Yap1tm1c(KOMP)Mbp PMC6127083
Loss of Mob1a/b in mice results in chondrodysplasia due to YAP1/TAZ-TEAD-dependent repression of SOX9. Development (Cambridge, England) (March 2018) Yap1tm1c(KOMP)Mbp 29511023
MOB1-YAP1/TAZ-NKX2.1 axis controls bronchioalveolar cell differentiation, adhesion and tumour formation. Oncogene (March 2017) Yap1tm1a(KOMP)Mbp 28346423
Study of corneal epithelial progenitor origin and the Yap1 requirement using keratin 12 lineage tracing transgenic mice. Scientific reports (October 2016) Yap1tm1a(KOMP)Mbp PMC5062132
YAP1 and TAZ Control Pancreatic Cancer Initiation in Mice by Direct Up-regulation of JAK-STAT3 Signaling. Gastroenterology (May 2016) Yap1tm1c(KOMP)Mbp Yap1tm1a(KOMP)Mbp PMC5007286
Integrin signalling regulates YAP and TAZ to control skin homeostasis. Development (Cambridge, England) (March 2016) Yap1tm1c(KOMP)Mbp PMC4874484
Dysregulated YAP1/TAZ and TGF-β signaling mediate hepatocarcinogenesis in Mob1a/1b-deficient mice. Proceedings of the National Academy of Sciences of the United States of America (December 2015) Yap1tm1c(KOMP)Mbp PMC4711826

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
Yap1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Yap1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Yap1tm1b(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Yap1tm197895(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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