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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
hyperactivity	Pank4^{em1(IMPC)Kmpc}	HOM	Late adult	2.12×10^-05
abnormal liver morphology	Pank4^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
decreased circulating creatinine level	Pank4^{em1(IMPC)Kmpc}	HOM	Late adult	2.83×10^-06
increased freezing behavior	Pank4^{em1(IMPC)Kmpc}	HOM	Early adult	2.88×10^-06

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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 (357 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
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
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	Mania, Depression	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, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
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	Punctate corneal dystrophy, Cataract, 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
Obsessive-Compulsive Disorder	Collectionism, Compulsive behaviors, Skin-picking, Depression	OMIM:164230
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Galactosemia Iv	Cataract	OMIM:618881
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
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, Megalocornea, Persistent pupillary membrane	OMIM:178900
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
X-Linked Retinoschisis	Cataract	ORPHA:792
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
Galactosemia Ii	Cataract	OMIM:230200
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
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	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	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	Microcornea, Cataract, Aniridia	OMIM:106230
Cataract 47	Microcornea, Cataract	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
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Hyperprolinemia, Type I	Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur...	OMIM:239500
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Pellagra-Like Syndrome	Cataract	OMIM:260650
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Aniridia 3	Aniridia, Cataract	OMIM:617142
Hyperlysinemia, Type I	Hyperlysinemia, Hyperactivity, Hyperlysinuria	OMIM:238700
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Cataract 48	Cataract	OMIM:618415
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Congenital Varicella Syndrome	Cataract	ORPHA:291
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma	OMIM:120433
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia	OMIM:605899
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, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Neutral hyperaminoaciduria	OMIM:234500
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Histidinemia	Histidinuria, Hyperactivity, Hyperhistidinemia	ORPHA:2157
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat...	OMIM:617872
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Cataract	ORPHA:2528
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract	ORPHA:2489
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Xeroderma Pigmentosum, Complementation Group G	Cataract	OMIM:278780
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Cataract 24	Anterior polar cataract	OMIM:601202
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Wagner Vitreoretinopathy	Cataract	OMIM:143200
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Morm Syndrome	Cataract	ORPHA:75858
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b...	OMIM:612736
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Stickler Syndrome, Type V	Cataract	OMIM:614284
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Achromatopsia 3	Cataract	OMIM:262300
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract	OMIM:615352
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration	OMIM:619468
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Leber Congenital Amaurosis 2	Keratoconus, Cataract	OMIM:204100
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation	ORPHA:67048
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Increased blood ure...	OMIM:614817
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Aniridia-Absent Patella Syndrome	Aniridia, Cataract	ORPHA:1069
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent...	OMIM:261600
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Preeclampsia	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Abnormality of the ...	ORPHA:275555
Leber Congenital Amaurosis	Keratoconus, Cataract	ORPHA:65
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Microphthalmia, Isolated 5	Cataract	OMIM:611040
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Stiff Skin Syndrome	Cataract	OMIM:184900
Leber Congenital Amaurosis 8	Keratoconus, Cataract	OMIM:613835
Usher Syndrome Type 1	Cataract, Iris hypopigmentation	ORPHA:231169
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Argininemia	Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Diami...	OMIM:207800
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract	OMIM:601794
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin...	OMIM:613095
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract	ORPHA:363741
Citrullinemia Type Ii	Elevated hepatic transaminase, Restlessness, Hyperactivity, Decreased HDL cholesterol concentrati...	ORPHA:247585
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Cataract, Iris coloboma, Corneal scarring	OMIM:212550
Monilethrix	Cataract	ORPHA:573
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Retinitis Pigmentosa 2	Cataract	OMIM:312600
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
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior	OMIM:612716
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Gyrate Atrophy Of Choroid And Retina	Cataract, Subcapsular cataract	ORPHA:414
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Hypoalbuminemia, Decrea...	OMIM:608104
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho...	ORPHA:232
Ifap Syndrome 2	Keratitis, Keratoconjunctivitis sicca, Cataract	OMIM:619016
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract	OMIM:614878
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Elevated circulatin...	OMIM:620138
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Cataract 49	Posterior cortical cataract	OMIM:619593
Nance-Horan Syndrome	Microcornea, Cataract	ORPHA:627
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Subcapsular cataract, Cataract	OMIM:612674
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Hyperuricemia, Elevated circulating creatinine concentration, Self-mutilation	ORPHA:79233
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608836
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Keratitis, Cataract, Conjunctivitis	OMIM:612843
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E...	ORPHA:91547
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Vogt-Koyanagi-Harada Disease	Cataract	ORPHA:3437
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting	OMIM:618314
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Cortical cataract	OMIM:616468
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Elevated circulating creatinine concentration	OMIM:614376
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
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
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Senior-Loken Syndrome 1	Polydipsia, Elevated circulating creatinine concentration	OMIM:266900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber	ORPHA:280921
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularization	OMIM:278730
Intermediate Uveitis	Posterior synechiae of the anterior chamber, Cataract, Band keratopathy	ORPHA:279914
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Agitation, Restlessness, Depression	ORPHA:100924
Microphthalmia, Syndromic 5	Microcornea, Cataract	OMIM:610125
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Polycystic liver disease, Elevated circulating creatinine concentration, Hepati...	ORPHA:730
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration, Abnormality of the hepatic vasculature, Nodular re...	ORPHA:247691
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ...	ORPHA:36234
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Peritonitis, Elevated circulating creatinine concentration, Hypokalemia, Unconjugat...	ORPHA:90038
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Biliary tract abnor...	OMIM:137920
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Oligomeganephronia	Polydipsia, Elevated circulating creatinine concentration	ORPHA:2260
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Multiple Myeloma	Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperamylasemi...	ORPHA:99826
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Hyperkalemia, Elevated circulating creatinine concentration, Hyper...	ORPHA:340
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619534
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente...	ORPHA:449395
Yellow Fever	Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu...	ORPHA:99829
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
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	Aminoaciduria, Elevated circulating C-reactive protein concentration, Elevated circulating creati...	ORPHA:91500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b...	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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