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Gene: Pkd2l2 MGI:1858231

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Gene Summary

Name:
polycystic kidney disease 2-like 2
Synonyms:
TRPP5,  Polycystin - L2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased bone mineral density Pkd2l2tm1b(EUCOMM)Wtsi HOM Early adult 1.29×10-07
increased blood urea nitrogen level Pkd2l2tm1b(EUCOMM)Wtsi HOM Early adult 1.68×10-31
increased circulating fructosamine level Pkd2l2tm1b(EUCOMM)Wtsi HOM Early adult 1.34×10-06
decreased fasting circulating glucose level Pkd2l2tm1b(EUCOMM)Wtsi HOM Early adult 7.46×10-07
increased circulating potassium level Pkd2l2tm1b(EUCOMM)Wtsi HOM Early adult 1.81×10-16
increased circulating creatinine level Pkd2l2tm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 0.0% (0 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Not available
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Not available
Embryo N/A heterozygote 0.0% (0 of 2)
Embryo N/A homozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 1)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 1)
Forebrain N/A heterozygote Not available
Forebrain N/A homozygote Not available
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 1)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 1)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 1)
Heart N/A heterozygote Ambiguous
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Not available
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 1)
Liver N/A heterozygote Not available
Liver N/A homozygote Not available
Lung N/A heterozygote Not available
Lung N/A homozygote Not available
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 1)
Maxillary process N/A heterozygote Not available
Maxillary process N/A homozygote Not available
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Not available
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Not available
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Not available
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

Associated Images

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

Echo

M-Mode Images

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

7 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Pkd2l2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pkd2l2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Depression, Attention deficit hyperactivity disorder OMIM:613003
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short attention span DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity, Short attention span OMIM:608443
Schizophrenia 15
Hyperactivity OMIM:613950
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior OMIM:607417
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Pathologic fract... OMIM:620366
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine concentration OMIM:617872
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Hypokalemia, Hypocalcemia, Osteomalacia, Elevated circulating creatinine con... OMIM:179800
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Glycosuria, Elevated circulating creatinine concentration OMIM:614817
Renal Tubular Acidosis, Proximal
Rickets, Elevated circulating creatinine concentration, Osteomalacia OMIM:179830
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Fanconi Renotubular Syndrome 3
Rickets, Glycosuria, Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:240200
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Orthostatic Hypotension 1
Neonatal hypoglycemia, Increased blood urea nitrogen, Hypomagnesemia, Joint hypermobility, Elevat... OMIM:223360
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Idiopathic Non-Lupus Full-House Nephropathy
Arthritis, Elevated circulating creatinine concentration, Synovitis ORPHA:567544
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Diabetes mellitus OMIM:613845
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:617056
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypoglycemia OMIM:614736
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hyperchloremia OMIM:614495
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
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
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture OMIM:616733
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, I... ORPHA:230
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Hyperchloremia OMIM:614496
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:231111
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Aminoaciduria ORPHA:664
Renal Tubular Acidosis Iii
Rickets, Osteomalacia, Hypokalemia OMIM:267200
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyponatremia, Flex... ORPHA:682
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Decreased circulating renin level, Hyperchloremia OMIM:614492
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:251004
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Distal symphalangism, Elevated circulating creatinine concentration OMIM:154230
Fanconi Renotubular Syndrome 1
Rickets, Hypokalemia, Glycosuria, Hypophosphatemia, Osteomalacia, Aminoaciduria OMIM:134600
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Generalized Pseudohypoaldosteronism Type 1
Increased circulating renin level, Hyponatremia, Hyperkalemia, Osteomyelitis ORPHA:171876
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Gout, Hyperuricemia ORPHA:79233
Fanconi-Bickel Syndrome
Rickets, Increased serum bile acid concentration, Fasting hypoglycemia, Generalized aminoaciduria... OMIM:227810
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... OMIM:241150
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Preeclampsia
Type I diabetes mellitus, Elevated circulating creatinine concentration ORPHA:275555
Hypokalemic Periodic Paralysis
Mildly elevated creatine kinase, Episodic hypokalemia, Postprandial hyperglycemia ORPHA:681
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Elevated creatine kinase after exercise ORPHA:57
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypokalemia OMIM:602722
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatinine concentration, Elbow flexion contracture, Elevated circulating lo... OMIM:608836
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly OMIM:608104
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Familial Pseudohyperkalemia
Hyperkalemia ORPHA:90044
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia, Radial club hand OMIM:617053
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Familial Glucocorticoid Deficiency
Hyperkalemia, Ketotic hypoglycemia, Hyponatremia, Hypoglycemic seizures ORPHA:361
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Glycosuria, Hyponatremia, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Addison Disease
Hyperkalemia, Generalized bone demineralization, Hyperuricemia, Hypoglycemia, Increased circulati... ORPHA:85138
Liddle Syndrome
Hypokalemia ORPHA:526
Acute Adrenal Insufficiency
Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia, Hypo... ORPHA:95409
Renal Hypoplasia, Bilateral
Hyperkalemia, Glycosuria, Hyponatremia ORPHA:97362
Cystinosis
Rickets, Hypokalemia, Hypophosphatemia, Type I diabetes mellitus, Aminoaciduria ORPHA:213
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Diabetes mellitus, Hyperlipidemia ORPHA:439232
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating renin level, Hyponatremia, Neonatal hypoglycemia, Hyperkalemia ORPHA:90791
Multiple Myeloma
Osteopenia, Hypercalcemia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine... ORPHA:29073
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia, Hypoglycemia ORPHA:90790
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Rheumatoid arthriti... ORPHA:49041
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypokalemia OMIM:618126
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Reduced bone mineral density, Abnormal circulating cholester... ORPHA:168558
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Foot joint contracture ORPHA:90321
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Neonatal hypoglycemia, Reduced bone mineral density, Abnormal circulating cholester... ORPHA:289548
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hypokalemia OMIM:611590
Birk-Landau-Perez Syndrome
Hyperkalemia, Increased circulating creatine kinase MB isoform OMIM:617595
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hyperamylasemia, Hypokalemia OMIM:604278
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Generalized aminoaciduria, Decreased circu... ORPHA:3337
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:174000
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia OMIM:177200
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Hyperuricemia, Impaired glucose tolerance, Glycosuria, Diab... OMIM:137920
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Arthritis, Elevated circulating creatine kinase concentration, Septic arthritis, Hy... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Hypomagnesemia 2, Renal
Hypomagnesemia, Hypokalemia OMIM:154020
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hypokalemia OMIM:618314
Corticosteroid-Binding Globulin Deficiency
Reduced circulating cortisol-binding globulin concentration, Hypokalemia OMIM:611489
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Conjugated hyperbilirubinemia OMIM:608885
Sickle Cell Anemia
Elevated circulating creatinine concentration, Osteomyelitis, Osteoporosis, Unconjugated hyperbil... ORPHA:232
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia OMIM:218030
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia OMIM:188580
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Pituitary Adenoma 4, Acth-Secreting
Glucose intolerance, Osteoporosis, Impaired glucose tolerance, Hypokalemia OMIM:219090
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased... ORPHA:85450
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia OMIM:613239
Papillorenal Syndrome
Joint hypermobility, Elevated circulating creatinine concentration OMIM:120330
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Infantile Nephropathic Cystinosis
Rickets, Hypokalemia, Glycosuria, Hypophosphatemia, Abnormal blood ion concentration, Aminoaciduria ORPHA:411629
Hypomagnesemia 3, Renal
Rickets, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, ... OMIM:248250
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia, Septic arthritis, Diabetes mellitus ORPHA:544482
Cholera
Hypokalemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypoglycemia ORPHA:173
Ethylene Glycol Poisoning
Hypocalcemia, Hyperkalemia ORPHA:31826
Osteootohepatoenteric Syndrome
Recurrent fractures, Reduced bone mineral density, Increased serum bile acid concentration, Hypok... OMIM:619377
Diarrhea 1, Secretory Chloride, Congenital
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:214700
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Hypokalemia OMIM:613677
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Glycos... ORPHA:447
Romano-Ward Syndrome
Hypokalemia ORPHA:101016
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyponatremia, Hyperkalemia, Hypercholesterolemia ORPHA:275761
Marburg Hemorrhagic Fever
Elevated circulating creatinine concentration, Hypokalemia, Arthritis, Hyperamylasemia, Elevated ... ORPHA:99826
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Hypomagnesemia, Hypokalemia OMIM:175500
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Familial Hyperaldosteronism Type Ii
Hypokalemia ORPHA:404
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyperkalemia, Hyponatremia OMIM:201810
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Familial Hyperaldosteronism Type I
Hypokalemia ORPHA:403
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Aminoaciduria OMIM:617913
East Syndrome
Increased circulating renin level, Hypomagnesemia, Hypokalemia ORPHA:199343
Ectopic Aldosterone-Producing Tumor
Decreased circulating renin level, Hypokalemia ORPHA:231632
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Hypokalemia, Impaired glucose tolerance, Increased C-peptide level, Diabeti... ORPHA:769
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Familial Hyperaldosteronism Type Iii
Hypokalemia ORPHA:251274
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets, Generalized aminoaciduria, Reduced blood urea nitrogen, Hypoka... OMIM:219800
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Hypokalemia ORPHA:231580
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:613090
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia ORPHA:320
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyperkalemia, Tarsal synostosis, Decreased circulating renin level, Camptodactyly, Humeroradial s... OMIM:201750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Neonatal hypoglycemia, Hypochloremia ORPHA:90794
Distal Renal Tubular Acidosis
Rickets, Reduced bone mineral density, Hypokalemia, Osteomalacia, Aminoaciduria, Increased suscep... ORPHA:18
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypokalemia ORPHA:231625
Adrenocortical Carcinoma
Diabetes mellitus, Hypokalemia ORPHA:1501
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Incre... OMIM:601678
Mercury Poisoning
Hypokalemia ORPHA:330021
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypokalemia OMIM:615474
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypokalemia ORPHA:369929
Helix Syndrome
Hypermagnesemia, Hypokalemia OMIM:617671
Gitelman Syndrome
Hypermagnesemia, Maternal diabetes, Hypokalemia, Hypocalcemia, Hypomagnesemia, Type II diabetes m... ORPHA:358
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Increased circulating renin level, Hypomagnesemia, Hypokalemia OMIM:612780
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Bartter Syndrome, Type 3
Increased circulating renin level, Hyperchloriduria, Hypokalemia OMIM:607364
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ... ORPHA:449395
Proximal Renal Tubular Acidosis
Bicarbonaturia, Reduced bone mineral density, Hypokalemia, Glycosuria, Aminoaciduria ORPHA:47159
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Leprechaunism
Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Increased circulating renin level, Insulin r... ORPHA:508
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia, Hypokalemia ORPHA:786
Andersen Cardiodysrhythmic Periodic Paralysis
Joint hypermobility, Hypokalemia OMIM:170390
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Incre... OMIM:241200
Gitelman Syndrome
Increased circulating renin level, Hypomagnesemia, Hypokalemia OMIM:263800
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Recurrent fractures, Osteomalacia, Arthritis, Joint stiffness, Hyponatremia, Hypopho... ORPHA:534
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Joint hypermobility, Hypoalbuminem... OMIM:619534
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Glycosuria, Hypomagnesemia, Hypophosphatemia, Diabete... ORPHA:699
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90795
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia OMIM:602522
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro... ORPHA:91500
Bartter Syndrome Type 4
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia ORPHA:89938
Nelson Syndrome
Type II diabetes mellitus, Hypokalemia ORPHA:199244
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Hypokalemia, Glycosuria, Hyperglycemia, Increased ... ORPHA:466677
Vipoma
Diabetes mellitus, Hypercalcemia, Hypokalemia ORPHA:97282
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating renin level, Hypokalemia OMIM:202010
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Hypokalemia OMIM:618426
Tsh-Secreting Pituitary Adenoma
Osteopenia, Osteoporosis, Hypokalemia ORPHA:91347
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia OMIM:619573
Vascular Ehlers-Danlos Syndrome
Joint hypermobility, Osteoarthritis, Hypokalemia, Osteolysis ORPHA:286

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 Pkd2l2

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 Pkd2l2.

No publications found that use IMPC mice or data for Pkd2l2.

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
Pkd2l2tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Pkd2l2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pkd2l2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pkd2l2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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