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Gene: Prkaca MGI:97592

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein kinase, cAMP dependent, catalytic, alpha
Synonyms:
PKA,  Pkaca,  Cs,  C alpha

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prkaca mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ellis Van Creveld Syndrome
Failure to thrive, Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia,... ORPHA:289
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis OMIM:615830
Cardioacrofacial Dysplasia 1
OMIM:619142

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Nephrotic Syndrome, Type 17
Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M... OMIM:618176
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria ORPHA:2613
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... OMIM:308990
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Short stature, Hypospadias, Unilateral cryptorchidism, Female inf... ORPHA:261529
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Short stature, Reduced sperm motility, Disproportionate short-trunk short stature OMIM:602271
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility OMIM:615500
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm OMIM:612650
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Proteinuria, Short stature, Nephrotic syndrome, Mucopolysacchariduria OMIM:215250
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Short stature, Small for gestational age, Cryptorchidism, Chronic... ORPHA:97362
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm OMIM:613808
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm OMIM:242670
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Ciliary Dyskinesia, Primary, 11
Short stature, Reduced sperm motility OMIM:612649
Frasier Syndrome
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros... OMIM:136680
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility OMIM:615444
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia... ORPHA:85450
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal... OMIM:613388
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Thin bony cortex, Abnormal ... ORPHA:79106
Lead Poisoning
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Chronic k... ORPHA:330015
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure ORPHA:83451
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Proteinuria, Short stature, Large for gestational age, Nephrocalcinosis, Amino... OMIM:616026
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Weight loss, Hematuria, Renal artery stenosis, Infertilit... ORPHA:71273
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ... OMIM:219800
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... OMIM:137920
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Renal agenesis, Short stature, Small for gestatio... OMIM:227650
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... ORPHA:90793
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic ... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:600081
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemic rickets, Thin ... OMIM:241530
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:264700
Dent Disease 1
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex OMIM:277440
Partial Androgen Insensitivity Syndrome
Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... ORPHA:90797
46,Xy Partial Gonadal Dysgenesis
Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop... ORPHA:251510
Bloom Syndrome
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Small for ... ORPHA:125
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex ORPHA:289157
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Hypospadias, Abnormality of the kidney, Short stature, Unilateral... ORPHA:1772
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Dent Disease
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex ORPHA:1652
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Reduced bone mineral density ORPHA:2909
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis OMIM:612301
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology ORPHA:221008
Cystic Fibrosis
Male infertility, Failure to thrive, Hypercalciuria OMIM:219700
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology ORPHA:221016
Carney Complex
Sertoli cell neoplasm, Testicular neoplasm, Increased body weight, Testicular adrenal rest tumor,... ORPHA:1359
Noonan Syndrome 1
Male infertility, Hypospadias, Failure to thrive in infancy, Short stature, Postnatal growth reta... OMIM:163950
Ellis Van Creveld Syndrome
Failure to thrive, Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia,... ORPHA:289
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis OMIM:615830
Cardioacrofacial Dysplasia 1
OMIM:619142

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 Prkaca

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 Prkaca.

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

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
Prkacatm78930(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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