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Gene: Pank4 MGI:2387466

Gene Summary

Name:

pantothenate kinase 4

Synonyms:

D030031I12Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal liver morphology	Pank4^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
increased freezing behavior	Pank4^{em1(IMPC)Kmpc}	HOM	Early adult	3.20×10^-06
decreased circulating creatinine level	Pank4^{em1(IMPC)Kmpc}	HOM	Late adult	1.69×10^-06
hyperactivity	Pank4^{em1(IMPC)Kmpc}	HOM	Late adult	2.36×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

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1 Images

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Human diseases caused by Pank4 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.

Human diseases associated with Pank4 (1 diseases)
Human diseases predicted to be associated with Pank4 (363 diseases)

The table below shows human diseases associated to Pank4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cataract 49		Posterior cortical cataract	OMIM:619593

The table below shows human diseases predicted to be associated to Pank4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Depression, Mania	OMIM:125480
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Trichomegaly	Cataract	OMIM:190330
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cataract 7	Developmental cataract	OMIM:115660
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Nathalie Syndrome	Cataract	ORPHA:2663
Schizophrenia 15	Hyperactivity	OMIM:613950
X-Linked Retinoschisis	Cataract	ORPHA:792
Obsessive-Compulsive Disorder	Compulsive behaviors, Skin-picking, Depression, Collectionism	OMIM:164230
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Galactosemia Ii	Cataract	OMIM:230200
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Galactosemia Iv	Cataract	OMIM:618881
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Cataract 47	Cataract, Microcornea	OMIM:612018
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Nathalie Syndrome	Cataract	OMIM:255990
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Hyperprolinemia, Type I	Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi...	OMIM:239500
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Aniridia 3	Cataract, Aniridia	OMIM:617142
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Cataract 48	Cataract	OMIM:618415
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Congenital Varicella Syndrome	Cataract	ORPHA:291
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Dysphagia, Hyperactivity, Impulsivity	OMIM:620448
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma	OMIM:120433
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Glycine Encephalopathy 1	Hyperglycinuria, Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Cataract 18	Nuclear cataract	OMIM:610019
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Morm Syndrome	Cataract	ORPHA:75858
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo...	OMIM:617872
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva...	OMIM:619111
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea	ORPHA:2528
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Hartnup Disorder	Attention deficit hyperactivity disorder, Hyperactivity, Neutral hyperaminoaciduria	OMIM:234500
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract	ORPHA:2489
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Xeroderma Pigmentosum, Complementation Group G	Cataract	OMIM:278780
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Cataract	OMIM:620461
Stickler Syndrome, Type V	Cataract	OMIM:614284
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Wagner Vitreoretinopathy	Cataract	OMIM:143200
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre...	OMIM:612736
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity	ORPHA:1473
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:617113
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Polydipsia	OMIM:619468
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Achromatopsia 3	Cataract	OMIM:262300
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Phenylketonuria	Elevated urinary gamma-glutamylphenylalanine level, Self-mutilation, Maternal hyperphenylalaninem...	OMIM:261600
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract	OMIM:615352
Leber Congenital Amaurosis 2	Cataract, Keratoconus	OMIM:204100
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract	ORPHA:67048
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr...	OMIM:614817
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Microphthalmia, Isolated 5	Cataract	OMIM:611040
Hyperlysinemia, Type I	Hypoornithinemia, Hyperlysinuria, Cystinuria, Hyperlysinemia, Hyperactivity, Ornithinuria, Argini...	OMIM:238700
Leber Congenital Amaurosis 8	Cataract, Keratoconus	OMIM:613835
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor...	ORPHA:3077
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Stiff Skin Syndrome	Cataract	OMIM:184900
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract	OMIM:601794
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hepatic cysts, Hypokalemia, Hepatomegaly, Jaundice...	OMIM:613095
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hyperacti...	OMIM:207800
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity	ORPHA:101039
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract	ORPHA:363741
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Iris coloboma, Buphthalmos	OMIM:212550
Monilethrix	Cataract	ORPHA:573
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Retinitis Pigmentosa 2	Cataract	OMIM:312600
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra...	OMIM:608104
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Gyrate Atrophy Of Choroid And Retina	Cataract, Subcapsular cataract	ORPHA:414
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Ifap Syndrome 2	Cataract, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr...	OMIM:620138
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact...	OMIM:620141
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Subcapsular cataract	OMIM:612674
Cataract 49	Posterior cortical cataract	OMIM:619593
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ...	OMIM:608836
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Nance-Horan Syndrome	Cataract, Microcornea	ORPHA:627
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Preeclampsia	Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Elevated c...	ORPHA:275555
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Relapsing Fever	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Elevated circ...	ORPHA:91547
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Cataract, Keratitis	OMIM:612843
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Vogt-Koyanagi-Harada Disease	Cataract	ORPHA:3437
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy	ORPHA:1806
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl...	ORPHA:263479
Microphthalmia With Brain And Digit Anomalies	Sclerocornea, Cataract, Microcornea, Iris coloboma	ORPHA:139471
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Elevated circulating creatinine concentration	OMIM:614376
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia	OMIM:618314
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Elevated circulating creatinine concentration, Jaundice, Increased b...	OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Anterior chamber synechiae	ORPHA:85410
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Amyloidosis, Finnish Type	Cataract, Lattice corneal dystrophy	OMIM:105120
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Polydipsia	OMIM:266900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating hepatic t...	ORPHA:542323
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto...	OMIM:612109
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Elevated circulating creatinine concentration, Hepatosplenomegaly, Decr...	ORPHA:85450
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber	ORPHA:280921
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Conjunctivitis	OMIM:278730
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Elevated circu...	ORPHA:232
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Agitation	ORPHA:100924
Microphthalmia, Syndromic 5	Cataract, Microcornea	OMIM:610125
Intermediate Uveitis	Cataract, Band keratopathy, Posterior synechiae of the anterior chamber	ORPHA:279914
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Nodular re...	ORPHA:247691
Autosomal Dominant Polycystic Kidney Disease	Hepatic cysts, Elevated circulating creatinine concentration, Pancreatic cysts, Polycystic liver ...	ORPHA:730
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Hyperactivity	ORPHA:85327
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Polydipsia, Elevated circulating creatinine concentration, Hypocalce...	ORPHA:411634
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Hypocalcemia, Elevated...	ORPHA:36234
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Sclerocornea, Cataract, Microcornea, Ectopia pupillae	OMIM:615877
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre...	OMIM:612716
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula...	OMIM:101000
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Peritonitis, Pancreatit...	ORPHA:90038
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Oligomeganephronia	Elevated circulating creatinine concentration, Polydipsia	ORPHA:2260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio...	ORPHA:67036
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Splenomegaly	ORPHA:29073
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Elevated circulating cr...	ORPHA:99826
Cardiogenic Shock	Hepatomegaly, Elevated circulating creatinine concentration	ORPHA:97292
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Decreased liver function, Abnormal mesentery morphology,...	ORPHA:449395
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Hemorrhagic Fever-Renal Syndrome	Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Elevated circulating ...	ORPHA:340
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Increased circulating ferritin concentratio...	OMIM:619534
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Polydipsia, H...	OMIM:248250
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability	OMIM:219090
Yellow Fever	Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating aspar...	ORPHA:99829
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration, Pancreatitis	ORPHA:93126
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,...	ORPHA:353277

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 Pank4

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 Pank4.

No publications found that use IMPC mice or data for Pank4.

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
Pank4^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Pank4^{em1(IMPC)Kmpc}	Exon Deletion	Mice
Pank4^{tm404248(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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