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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
decreased circulating creatinine level	Pank4^{em1(IMPC)Kmpc}	HOM	Late adult	1.69×10^-06
increased freezing behavior	Pank4^{em1(IMPC)Kmpc}	HOM	Early adult	3.20×10^-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
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
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Depression, Mania	OMIM:125480
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	Hyperactivity, Attention deficit hyperactivity disorder	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, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate 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	Depression, Skin-picking, Collectionism, Compulsive behaviors	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	Developmental cataract, Persistent pupillary membrane, 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	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Galactosemia Ii	Cataract	OMIM:230200
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Galactosemia Iv	Cataract	OMIM:618881
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	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, Microcornea, Aniridia	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	Microcornea, Progressive cataract, Developmental cataract, 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	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	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, Ectopia lentis, Aniridia	ORPHA:1068
Hyperprolinemia, Type I	Prolinuria, Hyperactivity, Hyperglycinuria, Hydroxyprolinuria, Motor stereotypy, Hyperprolinemia,...	OMIM:239500
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Cataract 10, Multiple Types	Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract	OMIM:600881
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
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	Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract	OMIM:116200
Smith-Magenis syndrome	Hyperactivity, Self-mutilation, Motor stereotypy	DECIPHER:8
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Aniridia 2	Cataract, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Motor stereotypy	OMIM:300271
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Cataract 3, Multiple Types	Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract	OMIM:601547
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Intellectual Developmental Disorder, X-Linked 109	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	OMIM:309548
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Fraxe Intellectual Disability	Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic...	ORPHA:100973
Cataract 17, Multiple Types	Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea	OMIM:611544
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Aniridia 3	Cataract, Aniridia	OMIM:617142
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	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
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cataract 48	Cataract	OMIM:618415
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Isolated Aniridia	Cataract, Peters anomaly, Aniridia	ORPHA:250923
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Congenital Varicella Syndrome	Cataract	ORPHA:291
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Hyperactivity, Dysphagia, 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	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Glycine Encephalopathy 1	Hyperactivity, Hyperglycinuria, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior	OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Self-injurious behavior, Aggressive behavior	OMIM:619031
Cataract 18	Nuclear cataract	OMIM:610019
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 41	Nuclear cataract	OMIM:116400
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c...	OMIM:604307
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Morm Syndrome	Cataract	ORPHA:75858
Histidinemia	Hyperactivity, Hyperhistidinemia, Histidinuria	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	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:301008
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hepat...	OMIM:617872
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
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
Coach Syndrome 2	Elevated circulating creatinine concentration, Portal fibrosis, Elevated circulating hepatic tran...	OMIM:619111
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
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	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria	OMIM:234500
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Self-injurious behavior, Agitation	OMIM:619970
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract	ORPHA:2489
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Xeroderma Pigmentosum, Complementation Group G	Cataract	OMIM:278780
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Cataract	OMIM:620461
Stickler Syndrome, Type V	Cataract	OMIM:614284
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Wagner Vitreoretinopathy	Cataract	OMIM:143200
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b...	OMIM:612736
Cataract 30, Multiple Types	Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract	OMIM:116300
Cataract 31, Multiple Types	Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract	OMIM:605387
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
Usher Syndrome Type 3	Cataract, Iris hypopigmentation, Astigmatism	ORPHA:231183
Edict Syndrome	Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris	OMIM:614303
Cataract 6, Multiple Types	Developmental cataract, Posterior polar cataract	OMIM:116600
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Hyperactivity	OMIM:615924
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma	ORPHA:1473
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity	OMIM:617113
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Cataract 20, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract	OMIM:116100
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia	OMIM:617744
Cataract 15, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Cortical cataract, Nuclear cataract	OMIM:611391
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration	OMIM:619468
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n...	OMIM:300539
Achromatopsia 3	Cataract	OMIM:262300
Phenylketonuria	Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Maternal hyperphenylalaninemia, Atten...	OMIM:261600
Dermatitis, Atopic	Cataract, Keratoconus, Conjunctivitis	OMIM:603165
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis, Buphthalmos	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, Developmental cataract, Posterior synechiae of the anterior chamber	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	Microphakia, Lens subluxation, Cataract	ORPHA:171844
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Cataract 16, Multiple Types	Lenticonus, Developmental cataract, Posterior polar cataract	OMIM:613763
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin...	OMIM:614817
Anterior Segment Dysgenesis 5	Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics	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	Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Hyperlysinemia, Type I	Argininuria, Hyperactivity, Hyperlysinemia, Hypoornithinemia, Ornithinuria, Hyperlysinuria, Homoc...	OMIM:238700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Microphthalmia, Isolated 5	Cataract	OMIM:611040
Leber Congenital Amaurosis 8	Cataract, Keratoconus	OMIM:613835
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Stiff Skin Syndrome	Cataract	OMIM:184900
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ...	OMIM:613195
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	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
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat...	ORPHA:247585
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract	OMIM:601794
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel...	OMIM:619827
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Hypokalemia, Elevated circulating alpha-fetoprotein concentration, Hepati...	OMIM:613095
Argininemia	Anorexia, Hepatomegaly, Portal fibrosis, Hyperactivity, Cholestasis, Hyperargininemia, Hyperammon...	OMIM:207800
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior	ORPHA:101039
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
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, Buphthalmos, Corneal scarring, Iris coloboma	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
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Retinitis Pigmentosa 2	Cataract	OMIM:312600
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Cholestasis, Hypoalbuminemia, Elevated circulating creati...	OMIM:608104
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	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, Keratitis, Keratoconjunctivitis sicca	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	Hyperactivity, Frequent temper tantrums, Impulsivity, Motor stereotypy, Attention deficit hyperac...	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
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:608836
Cataract 49	Posterior cortical cataract	OMIM:619593
Nance-Horan Syndrome	Cataract, Microcornea	ORPHA:627
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Preeclampsia	Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:275555
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria...	OMIM:221900
Relapsing Fever	Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactiv...	ORPHA:91547
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Keratitis, Conjunctivitis	OMIM:612843
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Vogt-Koyanagi-Harada Disease	Cataract	ORPHA:3437
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:620366
Ectodermal Dysplasia-Blindness Syndrome	Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Corneal kera...	ORPHA:263479
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Sclerocornea, Iris coloboma	ORPHA:139471
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Hepatomegaly	OMIM:614376
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Exudative Vitreoretinopathy 6	Cataract, Cortical cataract, Nuclear cataract	OMIM:616468
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypomagnesemia, Self-biting, Hypokalemia	OMIM:618314
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Prolonged neonatal jaundice, Elevated circulating creatinine conce...	OMIM:274150
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	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
Nephronophthisis 2	Hyperkalemia, Elevated circulating creatinine concentration	OMIM:602088
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Amyloidosis, Finnish Type	Lattice corneal dystrophy, Cataract	OMIM:105120
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating hepatic t...	ORPHA:542323
Senior-Loken Syndrome 1	Polydipsia, Elevated circulating creatinine concentration	OMIM:266900
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D...	OMIM:612109
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circul...	ORPHA:85450
Traboulsi Syndrome	Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chamber, Cataract, Spo...	OMIM:601552
Idiopathic Panuveitis	Cataract, Conjunctival hyperemia, Posterior synechiae of the anterior chamber	ORPHA:280921
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Keratitis, Conjunctivitis, Cataract, Keratoconjunctivitis sicca	OMIM:278730
Sickle Cell Anemia	Jaundice, Cholelithiasis, Splenic infarction, Unconjugated hyperbilirubinemia, Abnormality of the...	ORPHA:232
Porphyria Due To Ala Dehydratase Deficiency	Depression, Agitation, Abnormal fear-induced behavior, Restlessness	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	Nodular regenerative hyperplasia of liver, Elevated circulating creatinine concentration, Abnorma...	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
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Juvenile Nephropathic Cystinosis	Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic...	ORPHA:411634
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatine kinase concentration, Peritonitis, Hypoalbuminemia, E...	ORPHA:36234
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Sclerocornea, Ectopia pupillae	OMIM:615877
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Transient hyperphenylalaninemia, Hyperactivity, Hyperphenylalaninemia, Abnormal circulating neopt...	OMIM:612716
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Schwannomatosis, Vestibular	Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opacities, Cataract, Co...	OMIM:101000
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Hyperuricemia, Pancreatic hypoplasia, Bi...	OMIM:137920
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Peritonitis, Elevated c...	ORPHA:90038
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Oligomeganephronia	Polydipsia, Elevated circulating creatinine concentration	ORPHA:2260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Autosomal Dominant Optic Atrophy And Cataract	Posterior subcapsular cataract, Posterior cortical cataract, Anterior subcapsular cataract, Catar...	ORPHA:67036
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration	ORPHA:230
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Anorexia, Elevated ...	ORPHA:49041
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Multiple Myeloma	Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Hyperproteinemia	ORPHA:29073
Marburg Hemorrhagic Fever	Anorexia, Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Hypoka...	ORPHA:99826
Cardiogenic Shock	Elevated circulating creatinine concentration, Hepatomegaly	ORPHA:97292
Igg4-Related Kidney Disease	Decreased liver function, Pancreatitis, Sclerosing cholangitis, Elevated circulating C-reactive p...	ORPHA:449395
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Agitation, Elevated circulating hepatic transaminase concentration, Hyperphosphatem...	ORPHA:340
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating creatinine concentration, Hyperbilirubine...	OMIM:619534
Hypomagnesemia 3, Renal	Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio...	OMIM:248250
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Yellow Fever	Jaundice, Hyperbilirubinemia, Acute pancreatitis, Elevated circulating creatine kinase concentrat...	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	Anorexia, Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-re...	ORPHA:91500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	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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