Gene Summary

Name:
5-phosphohydroxy-L-lysine phospholyase
Synonyms:
2900006B13Rik,  Agxt2l2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
increased circulating phosphate level Phykpltm1a(EUCOMM)Wtsi HOM Early adult 5.78×10-08
decreased prepulse inhibition Phykpltm1a(EUCOMM)Wtsi HOM Early adult 3.48×10-05
abnormal locomotor activation Phykpltm1a(EUCOMM)Wtsi HOM   Early adult 3.65×10-06
increased startle reflex Phykpltm1a(EUCOMM)Wtsi HOM Early adult 3.33×10-06
increased circulating calcium level Phykpltm1a(EUCOMM)Wtsi HOM Early adult 5.47×10-07
decreased circulating alkaline phosphatase level Phykpltm1a(EUCOMM)Wtsi HOM Early adult 1.92×10-09
abnormal retina morphology Phykpltm1a(EUCOMM)Wtsi HOM Early adult 9.66×10-06
decreased circulating creatinine level Phykpltm1a(EUCOMM)Wtsi HOM Early adult 5.63×10-13

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Phykpl 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 Phykpl by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94090
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Papilledema OMIM:240150
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:36913
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Highly elevated creatine kinase, Fatigable weakness of swallowing mus... ORPHA:99845
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Retinal degeneration, Hydroxyprolinuria, Hyperuricemia, Hydroxyproline... OMIM:239000
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Dystonia, Decreased serum iro... ORPHA:48818
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Angioid streaks of the fundus, Calcinosis, Hyperphosphatemia OMIM:211900
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Autosomal Dominant Hypocalcemia
Hypocalcemia, Writer's cramp, Fatigable weakness, Hyperphosphatemia, Hypomagnesemia, Optic atrophy ORPHA:428
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Saccharopinuria
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Pseudohypoparathyroidism, Type Ic
Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Transient hypophosphatemia, Hypocalcemia, Papilledema, Hyperphosphatemia OMIM:127000
Non-Functioning Paraganglioma
Hypertensive retinopathy, Hypercalcemia, Tremor ORPHA:94080
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Spinocerebellar Ataxia Type 27
Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Difficulty wal... ORPHA:98764
Neuroleptic Malignant Syndrome
Hyponatremia, Oculogyric crisis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated circulating ... ORPHA:94093
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Short stepped shuffling gait, Loss of ability to walk, Blepharospasm, Akinesia,... ORPHA:240094
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Dent Disease 2
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypophosphatemia OMIM:300555
Hypophosphatasia
Hypercalcemia ORPHA:436
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypertensive retinopathy, Hypercalcemia OMIM:171420
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Macular dystrophy, Hypercalcemia, Abnormal retinal morphology on m... ORPHA:251004
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Hypercalcemia, Infantile, 1
Infantile hypercalcemia OMIM:143880
Parkinson Disease 17
Resting tremor, Akinesia, Tremor OMIM:614203
Linear Verrucous Nevus Syndrome
Retinopathy, Hypophosphatemia, Aplasia/Hypoplasia of the fovea ORPHA:2611
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Waddling gait, Hypercalcemia OMIM:156400
Aceruloplasminemia
Increased circulating ferritin concentration, Retinal degeneration, Decreased serum iron, Blephar... OMIM:604290
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Hypocalcemic seizures, Papilledema, Hyperphosphatemia, Hypocalcemic tetany ORPHA:93325
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia OMIM:619658
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79444
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hypercalcemia, Hypophosphatemia, Calcinosis OMIM:239200
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
2P21 Microdeletion Syndrome
Hypocalcemia, Cystinuria ORPHA:163693
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia OMIM:241500
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, Inability to walk, Akines... ORPHA:391411
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia ORPHA:172
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration, Ataxia, Decreased LDL cholesterol concentration OMIM:615558
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Hypophosphatemia OMIM:613388
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
C3 Glomerulopathy
Yellow/white lesions of the retina, Central serous chorioretinopathy, Elevated circulating creati... ORPHA:329918
Fanconi Renotubular Syndrome 5
Aminoaciduria, Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide level, Hypophosphatemic rickets, Waddling gait,... ORPHA:157215
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Cystinosis
Retinopathy, Hypokalemia, Aminoaciduria, Gait disturbance, Hypophosphatemia ORPHA:213
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Hypermagnesemia, Renal hypophospha... ORPHA:405
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertensive retinopathy, Hypercalcemia, Tremor ORPHA:276621
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Optic atrophy OMIM:101800
Spinocerebellar Ataxia Type 21
Gait ataxia, Progressive cerebellar ataxia, Akinesia, Tremor ORPHA:98773
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Calcinosis, Hyperphosphatemia, Hypocalce... ORPHA:79443
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Fanconi Renotubular Syndrome 1
Aminoaciduria, Hypokalemia, Hypophosphatemia OMIM:134600
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Shuffling gait, Intention tremor, Akinesia, Ataxia, Abnormal vestibulo-ocular ref... ORPHA:247234
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Hypercalcemia, Tremor ORPHA:476126
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia OMIM:618440
Spinocerebellar Ataxia 21
Dystonia, Intention tremor, Ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Limb at... OMIM:607454
Coach Syndrome 2
Chorioretinal coloboma, Elevated circulating creatinine concentration OMIM:619111
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Aminoaciduria, Hypophosphatemia OMIM:308990
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Corticobasal Syndrome
Dystonia, Akinesia, Limb dystonia, Gait disturbance, Tremor ORPHA:454887
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Ataxia, Elevated circulating creatine kinase concentration, Hyperphos... ORPHA:466650
Pheochromocytoma
Hypertensive retinopathy, Hypercalcemia OMIM:171300
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Hereditary Pheochromocytoma-Paraganglioma
Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia, Tremor ORPHA:29072
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93324
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypokalemia, Hypophosphatemia, Hypouricemia OMIM:227810
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia, Optic atrophy OMIM:618476
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Acute Adrenal Insufficiency
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia ORPHA:95409
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dystonia, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Autosomal Dominant Cerebellar Ataxia
Action tremor, Retinal degeneration, Dystonia, Resting tremor, Hand tremor, Akinesia, Progressive... ORPHA:99
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Fibrous Dysplasia Of Bone
Antalgic gait, Hypophosphatemia, Difficulty walking, Hypercalcemia ORPHA:249
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Difficulty walking OMIM:264700
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Cystinuria OMIM:606407
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypophosphatemia, Hypouricemia OMIM:616026
Mastocytosis
Hypercalcemia ORPHA:98292
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Colchicine Poisoning
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Hypophosphatemia, Hypo... ORPHA:31824
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Hypocalcemia, Hypophosphatemia, Difficulty walking ORPHA:289157
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Difficulty walking OMIM:600081
Albers-Sch├Ânberg Osteopetrosis
Hypocalcemia, Optic atrophy ORPHA:53
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration ORPHA:340
Classic Progressive Supranuclear Palsy Syndrome
Dystonia, Axial dystonia, Blepharospasm, Akinesia, Gait imbalance, Falls, Tremor ORPHA:240071
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Difficulty walking, Hypophosphatemia OMIM:241530
Timothy Syndrome
Hypocalcemia OMIM:601005
Monosomy 13Q34
Infantile hypercalcemia ORPHA:96168
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia ORPHA:280651
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Kufor-Rakeb Syndrome
Dystonia, Akinesia, Ataxia, Gait disturbance, Torticollis, Tremor OMIM:606693
Addison Disease
Hyponatremia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, Hyperuricemia ORPHA:85138
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99880
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures, Difficulty walking OMIM:277440
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:143
Manganese Poisoning
Postural tremor, Dystonia, Akinesia, Gait disturbance ORPHA:306682
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:307800
Lethal Congenital Contracture Syndrome 2
Degenerative vitreoretinopathy, Akinesia OMIM:607598
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Retinal detachment OMIM:607143
Perry Syndrome
Dystonia, Short stepped shuffling gait, Akinesia, Tremor OMIM:168605
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypomagnesemia, Hypocalcemia OMIM:175500
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Multiple Endocrine Neoplasia, Type I
Hypercalcemia OMIM:131100
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Attenuation of retinal blood vessels OMIM:614376
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Hypocalcemia, Tip-toe gait ORPHA:746
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Aminoaciduria, Pigmentary retinopathy, Hypophospha... ORPHA:411629
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response, Optic disc pallor, Optic atrophy OMIM:609541
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, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Akinesia, Increased serum pyruvate, Hyperalaninemia OMIM:619147
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Fanconi-Bickel Syndrome
Generalized aminoaciduria, Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Akinesia, Limb dystonia OMIM:616840
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia OMIM:618822
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Tremor OMIM:274150
Postencephalitic Parkinsonism
Resting tremor, Tremor by anatomical site, Akinesia, Oculogyric crisis ORPHA:97349
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Optic atrophy OMIM:259700
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Difficulty walking, Optic atrophy, Exaggerated startle response ORPHA:320406
Vipoma
Hypokalemia, Hypercalcemia ORPHA:97282
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Bicarbonaturia, Hypophosphatemic rickets... ORPHA:3337
X-Linked Agammaglobulinemia
Hypocalcemia ORPHA:47
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Ppoma
Hypercalcemia ORPHA:97278
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Retinal cotton wool spot, Retinal neovascularizati... ORPHA:247691
Hypophosphatemic Rickets
Hypophosphatemia, Hypercalcemia ORPHA:437
Dent Disease 1
Aminoaciduria, Hypophosphatemia OMIM:300009
Somatostatinoma
Hypercalcemia ORPHA:97283
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:232
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated creatine kinase, ... ORPHA:79102
Grfoma
Hypercalcemia ORPHA:97261
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Opsismodysplasia
Hypophosphatemia OMIM:258480
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Glucagonoma
Hypercalcemia ORPHA:97280
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Optic disc pallor, Hyperbilirubinemia, Optic atrophy OMIM:259720
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Tay-Sachs Disease
Cherry red spot of the macula, Dysmetria, Dystonia, Increased serum beta-hexosaminidase, Inabilit... ORPHA:845
Gracile Bone Dysplasia
Hypocalcemia OMIM:602361
Cystinosis, Nephropathic
Generalized aminoaciduria, Retinopathy, Hypokalemia, Hyponatremia, Hypophosphatemic rickets, Decr... OMIM:219800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Neurodegeneration With Brain Iron Accumulation 1
Retinal degeneration, Dystonia, Blepharospasm, Akinesia, Ataxia, Pigmentary retinopathy, Gait dis... OMIM:234200
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Transient a... OMIM:229600
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Optic nerve compression, Tremor ORPHA:667
Williams Syndrome
Dysmetria, Hypercalcemia, Abnormal circulating lipid concentration, Retinal arteriolar tortuosity... ORPHA:904
Pearson Syndrome
Hypokalemia, Hypocalcemia, Ataxia, Pigmentary retinopathy, Hypophosphatemia, Hypomagnesemia, Hype... ORPHA:699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Retinal dysplasia, Elevated circulating creatine kinase concentration, Exagge... OMIM:253800
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Difficulty walking ORPHA:3198
Double Outlet Right Ventricle
Hypocalcemia ORPHA:3426
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Supranuclear Palsy, Progressive, 1
Axial dystonia, Akinesia, Limb dystonia, Retrocollis, Gait imbalance, Falls, Tremor OMIM:601104
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Akinesia, Shuffling gait ORPHA:411602
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Ataxia OMIM:212750
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Rod-cone dystrophy, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Dent Disease
Elevated circulating creatine kinase concentration, Aminoaciduria, Renal hypophosphatemia, Hyperu... ORPHA:1652
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Hypocalcemia, Hypoalbuminemia, Hypomagnesemia, Decreased prealb... ORPHA:37042
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Ataxia ORPHA:31826
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Raine Syndrome
Hypophosphatemia OMIM:259775
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Osteopetrosis With Renal Tubular Acidosis
Abnormal retinal morphology, Hypocalcemia, Elevated circulating creatine kinase concentration, Re... ORPHA:2785
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Dystonia, Akinesia, Hand tremor OMIM:618947
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Oligomeganephronia
Optic disc coloboma, Elevated circulating creatinine concentration ORPHA:2260
Multiple Endocrine Neoplasia Type 1
Hypercalcemia ORPHA:652
Supranuclear Palsy, Progressive, 2
Axial dystonia, Akinesia, Retrocollis, Gait imbalance, Postural tremor, Falls OMIM:609454
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Gm2 Gangliosidosis, Ab Variant
Cherry red spot of the macula, Dystonia, Exaggerated startle response ORPHA:309246
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Gaucher Disease, Perinatal Lethal
Opisthotonus, Akinesia OMIM:608013
Velocardiofacial Syndrome
Hypocalcemia, Retinal vascular tortuosity OMIM:192430
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Williams-Beuren Syndrome
Retinal arteriolar tortuosity, Gait imbalance, Hypercalcemia OMIM:194050
Tay-Sachs Disease
Cherry red spot of the macula, Exaggerated startle response OMIM:272800
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Hypocalcemia ORPHA:175
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Chorioretinal dysplasia, Hypercholesterolemia, Hypoammonemia, Aminoaci... ORPHA:534
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:49041
Dpagt1-Cdg
Inability to walk, Akinesia, Ataxia, Diffuse optic disc pallor, Rod-cone dystrophy, Optic atrophy... ORPHA:86309
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Retinal vasculitis, Chorioretinal scar, Cystoid ma... ORPHA:91500
Sarcoidosis
Hypercalcemia ORPHA:797
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Broad-based gait, Exaggerated startle response ORPHA:438216
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Cranioectodermal Dysplasia 1
Retinal dystrophy, Hypocalcemia OMIM:218330
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Sotos Syndrome
Hypercalcemia, Tremor ORPHA:821
Sandhoff Disease
Cherry red spot of the macula, Ataxia, Exaggerated startle response OMIM:268800
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatinine concentration, Hyperamylasemia, Elevated circulating... ORPHA:99826
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
Gitelman Syndrome
Hypokalemia, Hypomagnesemia, Hypocalcemia, Hypermagnesemia ORPHA:358
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response OMIM:617301
22Q11.2 Deletion Syndrome
Retinal arteriolar tortuosity, Hypocalcemia, Optic atrophy ORPHA:567
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Hennekam Syndrome
Hypocalcemia ORPHA:2136
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Igg4-Related Kidney Disease
Decreased retinol-binding protein level, Elevated circulating C-reactive protein concentration, E... ORPHA:449395
Asparagine Synthetase Deficiency
Exaggerated startle response OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Optic atrophy, Exaggerated startle response ORPHA:521426
African Trypanosomiasis
Optic neuritis, Akinesia, Papilledema, Gait disturbance, Difficulty walking, Tremor ORPHA:3385
Yellow Fever
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Elevated circulating crea... ORPHA:99829
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Exaggerated startle response OMIM:617527
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Exaggerated startle response ORPHA:79255
Thymic Aplasia
Hypocalcemic tetany ORPHA:83471
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypocalcemia, Tip-toe gait, Hypomagnesemia, Falls, Broad-based gait OMIM:619503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Decreased serum iron, Inability to walk, Optic disc pallor, Exaggerated startle respons... ORPHA:438213
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Charge Syndrome
Hypocalcemia, Retinal coloboma OMIM:214800
Digeorge Syndrome
Hypocalcemia OMIM:188400
Johanson-Blizzard Syndrome
Hypocalcemia, Increased VLDL cholesterol concentration OMIM:243800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Phykpl

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 Phykpl.

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

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MGI Allele Allele Type Produced
Phykpltm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Phykpltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Phykpltm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phykpltm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Phykpltm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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