Gene Summary

Name:
plakophilin 4
Synonyms:
Armrp,  p0071,  9430019K17Rik,  5031422I09Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal bone structure Pkp4tm1b(EUCOMM)Wtsi HOM Early adult 5.26×10-08
abnormal sleep behavior Pkp4tm1b(EUCOMM)Wtsi HOM   Early adult 4.41×10-05
decreased circulating iron level Pkp4tm1b(EUCOMM)Wtsi HOM Early adult 1.02×10-06
decreased circulating calcium level Pkp4tm1b(EUCOMM)Wtsi HOM   Early adult 3.79×10-05
impaired righting response Pkp4tm1b(EUCOMM)Wtsi HOM Early adult 8.85×10-08
decreased bone mineral content Pkp4tm1b(EUCOMM)Wtsi HOM Early adult 3.00×10-08
increased circulating alkaline phosphatase level Pkp4tm1b(EUCOMM)Wtsi HOM Early adult 1.01×10-06
decreased bone mineral density Pkp4tm1b(EUCOMM)Wtsi HOM Early adult 1.52×10-11

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue 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 Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary 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)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
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
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 50% (1 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vascular system 0.0%
vesicular gland 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 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

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

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Section

34 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Pkp4 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 Pkp4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Hypocalcemia OMIM:615361
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypophosphatemia, Hypocalcemia OMIM:619073
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture OMIM:615883
Pseudohypoparathyroidism Type 2
Hypocalcemia, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Hypocalcem... ORPHA:94090
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Reduced bone mineral density ORPHA:172
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Hypokalemia, Osteomalacia, Pathologic fracture, Elevated circulating creatinine con... OMIM:179800
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Calvarial osteoscl... ORPHA:93324
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Laryngeal dystonia, Hypocalcemic tetany, Hyperphosp... ORPHA:36913
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Osteomalacia, Rickets, Hypocalcemia ORPHA:89937
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Laryngeal dystonia, Hypocalce... ORPHA:94089
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Osteomalacia, Abnormal bone struc... ORPHA:93160
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia, ... OMIM:601198
Albers-Sch├Ânberg Osteopetrosis
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Osteoarthritis, Arthr... ORPHA:53
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia ORPHA:2668
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... OMIM:617994
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Osteopenia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Ataxia, Hypocalcemia OMIM:618476
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia ORPHA:398063
Kenny-Caffey Syndrome, Type 1
Calvarial osteosclerosis, Hypomagnesemia, Hypocalcemia, Decreased skull ossification OMIM:244460
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Osteopetrosis, Autosomal Recessive 1
Osteomyelitis, Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Pat... OMIM:259700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Osteomal... ORPHA:289157
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno... ORPHA:79230
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
2P21 Microdeletion Syndrome
Hypocalcemia ORPHA:163693
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Fibrous dysplasia of the bones, Pathologic fracture, Increased su... ORPHA:352540
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Writer's cramp, Hyperphosphatemia, Pa... ORPHA:428
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Hyperphosphatemia, Transient hypophosphatemia, Thic... OMIM:127000
Gracile Bone Dysplasia
Hypocalcemia, Decreased skull ossification OMIM:602361
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Rickets OMIM:612089
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Hypomagnesemia, Hypokalemia, Hypocalcemia OMIM:175500
Timothy Syndrome
Hypocalcemia OMIM:601005
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Increased bone mineral density, Laryngeal dystonia, Ectopic ossification, Calcinosi... ORPHA:79444
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia ORPHA:2323
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Hypophosphatasia
Recurrent fractures, Hypercalcemia, Craniosynostosis ORPHA:436
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Infantile Myofibromatosis
Bone cyst, Osteolysis, Limitation of joint mobility, Hypercalcemia ORPHA:2591
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Increased bone mineral density, Laryngeal dystonia, Reduced bone mineral density, E... ORPHA:79443
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia ORPHA:99845
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Hypotonia-Cystinuria Syndrome
Hypocalcemia OMIM:606407
Paget Disease Of Bone 2, Early-Onset
Sclerosis of skull base, Fractures of the long bones, Osteolysis, Increased susceptibility to fra... OMIM:602080
X-Linked Agammaglobulinemia
Hypocalcemia, Osteomyelitis, Arthritis ORPHA:47
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification OMIM:103580
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis OMIM:612462
Celiac Disease, Susceptibility To, 1
Ataxia, Hypocalcemia, Osteoporosis, Rickets OMIM:212750
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Aceruloplasminemia
Torticollis, Increased circulating ferritin concentration, Ataxia, Blepharospasm, Aceruloplasmine... OMIM:604290
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Increased bone mineral density, Decreased osteoclast count, Hyperbilirubinemia, Ost... OMIM:259720
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Oculogyric crisis, Elevated circulating creatine kinase concentrati... ORPHA:94093
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... ORPHA:31824
Oculoskeletodental Syndrome
Hypocalcemia, Elbow flexion contracture, Hypercalcemia OMIM:618440
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... ORPHA:26793
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Hypophosphatemia, Hypocalcemia, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Hypophosphatasia, Infantile
Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification, Increased susc... OMIM:241500
Metaphyseal Chondrodysplasia, Jansen Type
Hip contracture, Hypophosphatemia, Osteopenia, Pathologic fracture, Knee flexion contracture, Hyp... OMIM:156400
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Hypocalcemia, Elevated circulating creatine kinase concentration, Arthritis, Eleva... ORPHA:36234
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia OMIM:600740
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hy... ORPHA:405
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron OMIM:231100
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Osteoporosis OMIM:601979
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Hypophosphatemia, T... OMIM:264700
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Cholera
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia ORPHA:173
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Fibrous Dysplasia Of Bone
Hypophosphatemia, Fibrous dysplasia of the bones, Osteomalacia, Thin bony cortex, Abnormal bone s... ORPHA:249
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:613313
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Pain insensitivity, Increased blood urea nitrogen, Craniosynostosis, Hyperca... ORPHA:251004
Beta-Thalassemia
Abnormality of iron homeostasis, Reduced bone mineral density ORPHA:848
Mastocytosis
Recurrent fractures, Impaired temperature sensation, Osteoporosis, Hypercalcemia ORPHA:98292
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia ORPHA:97289
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Hypophosphatemia, T... OMIM:277440
Cartilage-Hair Hypoplasia
Hypocalcemia, Abnormal bone ossification, Abnormally ossified vertebrae, Limited elbow extension,... ORPHA:175
Multiple Myeloma
Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine concentration,... ORPHA:29073
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Reduced bone mineral density, Osteopenia, Thin bony cortex, Joint laxity, Unconjuga... OMIM:613658
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... ORPHA:411634
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Osteomyelitis, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion conce... ORPHA:37042
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Aceruloplasminemia
Torticollis, Increased circulating ferritin concentration, Ataxia, Blepharospasm, Limb ataxia, Ac... ORPHA:48818
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron, Arthritis OMIM:602390
Non-Functioning Paraganglioma
Tremor, Hypercalcemia ORPHA:94080
Autosomal Dominant Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hyperphosphatemia, Calvarial ost... ORPHA:93325
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia ORPHA:746
Ethylene Glycol Poisoning
Ataxia, Hypocalcemia, Hyperkalemia ORPHA:31826
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Recurrent fractures, Elevated circulating creatine kinase concentration, Hypocalcemia ORPHA:2785
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin saturation OMIM:606069
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany ORPHA:73224
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Hypophosphatemic Rickets
Joint stiffness, Hypophosphatemia, Fibrous dysplasia of the bones, Osteomalacia, Patchy variation... ORPHA:437
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Unconjugated hyper... ORPHA:766
Cranioectodermal Dysplasia 1
Sagittal craniosynostosis, Hypocalcemia, Joint laxity, Osteoporosis OMIM:218330
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Bartter Syndrome, Type 1, Antenatal
Hypomagnesemia, Hypokalemia, Osteopenia, Increased circulating renin level, Increased serum prost... OMIM:601678
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia OMIM:145980
Exercise-Induced Malignant Hyperthermia
Ataxia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hype... ORPHA:466650
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Joint stiffness, Osteoporosis, Arthritis, Abnormali... ORPHA:465508
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Hypermanganesemia With Dystonia 1
Tremor, Hypermanganesemia, Unconjugated hyperbilirubinemia, Increased total iron binding capacity... OMIM:613280
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia OMIM:145981
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy, Ataxia OMIM:604121
Narcolepsy 3
Narcolepsy OMIM:609039
Hyperparathyroidism, Neonatal Severe
Calcinosis, Recurrent fractures, Hypophosphatemia, Hypercalcemia OMIM:239200
Pearson Syndrome
Ataxia, Hypophosphatemia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Hyperalaninemia ORPHA:699
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperextensibility of the finger joints, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Gitelman Syndrome
Hypomagnesemia, Hypokalemia, Hypocalcemia, Gout, Hypermagnesemia, Paresthesia ORPHA:358
Hennekam Syndrome
Camptodactyly of finger, Hypocalcemia, Craniosynostosis ORPHA:2136
Beta-Thalassemia Intermedia
Reduced bone mineral density, Osteopenia, Osteoporosis, Abnormality of iron homeostasis, Increase... ORPHA:231222
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Late-Onset Isolated Acth Deficiency
Hyponatremia, Generalized bone demineralization, Hypercalcemia, Hyperuricemia ORPHA:199299
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Osteoporosis, Increased serum iron OMIM:235200
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Narcolepsy 7
Narcolepsy OMIM:614250
Narcolepsy 1
Narcolepsy OMIM:161400
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hyperkalemia, Hyponatremia, Septic arthritis ORPHA:544482
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Velocardiofacial Syndrome
Hypocalcemia OMIM:192430
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
African Iron Overload
Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Elev... ORPHA:139507
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Hypocalcemic seizures, Abnormal trabecular bone morphology OMIM:612301
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Hypocalcemia, Joint hyperflexibility, Arthritis ORPHA:567
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:616278
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Gait ataxia, Hypercalcemia ORPHA:476126
Addison Disease
Increased circulating renin level, Generalized bone demineralization, Hyponatremia, Hyperuricemia... ORPHA:85138
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy, Ataxia, Head tremor, Resting tremor ORPHA:314404
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... OMIM:619991
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Osteoporosis, Hypercalcemia ORPHA:99880
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Hypercalcemia ORPHA:276621
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Osteopenia, Hypertriglyceridemia, Hypercalcemia, Joint hypermobility ORPHA:369837
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Osteoporosis, Hypercalcemia ORPHA:143
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Acute Adrenal Insufficiency
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia ORPHA:95409
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Action tremor, Dysdiadochokinesis, Truncal ataxia, ... ORPHA:309854
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:300298
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Hypercalcemia ORPHA:29072
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Hypomagnesemia, Hypocalcemia, Flexion contracture, Hyperextensibility of the fin... OMIM:619503
Pheochromocytoma
Hypercalcemia OMIM:171300
Niemann-Pick Disease Type C
Narcolepsy, Ataxia, Axial dystonia, Intention tremor, Chorea, Tremor, Limb dystonia, Progressive ... ORPHA:646
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron ORPHA:98870
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Impaired pain sensation, Hyperlipidemia, Hyponatremia ORPHA:293987
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia ORPHA:88673
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Osteoporosis ORPHA:231226
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Digeorge Syndrome
Hypocalcemia OMIM:188400
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Hypocalcemia, Joint laxity OMIM:243800
Beta-Thalassemia Major
Abnormality of iron homeostasis, Osteoporosis ORPHA:231214
Charge Syndrome
Hypocalcemia OMIM:214800
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Williams Syndrome
Joint stiffness, Ataxia, Increased bone mineral density, Dysmetria, Abnormal circulating lipid co... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Osteolysis, Hypercalcemia, Increased susceptibility to fractures, Reduced bone mineral density ORPHA:652
Multiple Endocrine Neoplasia Type 2
Joint laxity, Hypercalcemia ORPHA:653
Ppoma
Hypercalcemia ORPHA:97278
Somatostatinoma
Hypercalcemia ORPHA:97283
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Grfoma
Hypercalcemia ORPHA:97261
African Trypanosomiasis
Narcolepsy, Tremor, Somatic sensory dysfunction, Choreoathetosis, Paresthesia, Impaired proprioce... ORPHA:3385
Glucagonoma
Hypercalcemia ORPHA:97280
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia OMIM:222470
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Williams-Beuren Syndrome
Flexion contracture, Osteopenia, Osteoporosis, Radioulnar synostosis, Joint laxity, Hypercalcemia OMIM:194050
Sarcoidosis
Bone cyst, Hypercalcemia ORPHA:797
Sotos Syndrome
Hip contracture, Flexion contracture, Craniosynostosis, Tremor, Bilateral camptodactyly, Joint la... ORPHA:821
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064

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 Pkp4

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 Pkp4.

No publications found that use IMPC mice or data for Pkp4.

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MGI Allele Allele Type Produced
Pkp4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Pkp4tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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