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Gene: Raver2 MGI:2443623

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Gene Summary

Name:
ribonucleoprotein, PTB-binding 2
Synonyms:
A430091O22Rik

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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 grip strength Raver2em1(IMPC)J HOM Early adult 1.01×10-05
decreased circulating phosphate level Raver2em1(IMPC)J HOM Early adult 5.08×10-05

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Select physiological systems to view:
Viewing: all phenotypes
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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.

X-ray

XRay Images Skull Lateral Orientation

2 Images

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Electroretinography 3

Fundus file

5 Images

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X-ray

XRay Images Whole Body Dorso Ventral

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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X-ray

XRay Images Forepaw

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

7 Images

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PDF thumbnail PDF
Electrocardiogram (ECG)

Waveform Image

13 Images

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Human diseases caused by Raver2 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 Raver2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration OMIM:615361
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con... ORPHA:157215
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:241530
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Cystinosis
Hypophosphatemia, Hypokalemia ORPHA:213
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia OMIM:307800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia ORPHA:93160
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Autoimmune Hypoparathyroidism
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:36913
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94089
Dent Disease 1
Hypophosphatemia OMIM:300009
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Genetic Recurrent Myoglobinuria
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Opsismodysplasia
Hypophosphatemia OMIM:258480
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Fibrous Dysplasia Of Bone
Hypercalcemia, Hypophosphatemia ORPHA:249
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Raine Syndrome
Hypophosphatemia OMIM:259775
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti... OMIM:219800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia ORPHA:699
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Oculocerebrorenal Syndrome Of Lowe
Hypokalemia, Hyponatremia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia OMIM:239000
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:428
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79444
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia ORPHA:79443
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia ORPHA:466650
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340

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 Raver2

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 Raver2.

No publications found that use IMPC mice or data for Raver2.

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MGI Allele Allele Type Produced
Raver2em1(IMPC)J Exon Deletion Mice
Raver2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Raver2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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