Gene Summary

Name:
F-box and WD-40 domain protein 15
Synonyms:
Fbxo12J

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 lung morphology Fbxw15em1(IMPC)Ccpcz HOM Early adult 0.00
single kidney Fbxw15em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating phosphate level Fbxw15em1(IMPC)Ccpcz HOM   Early adult 3.14×10-06
abnormal zygomatic bone morphology Fbxw15em1(IMPC)Ccpcz HOM Early adult 8.61×10-05

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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 Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Human diseases caused by Fbxw15 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 Fbxw15 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia ORPHA:2239
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Increased renal tubular phosphate reabsorption, Pulp calcification, Calcinosis, Nephrocalcinosis,... OMIM:211900
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... OMIM:616963
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... OMIM:308990
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:94090
Blue Diaper Syndrome
Hypercalcemia, Blue urine, Hyperphosphatemia, Nephrocalcinosis ORPHA:94086
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney diseas... OMIM:618913
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Micrognathia, Abnormal nephron morphology, Abn... ORPHA:2260
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal phosphate wasting, Renal hypophosphatemia OMIM:241519
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Dent Disease 2
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... OMIM:300555
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Micrognathia, Renal agenesis, Unilateral renal agenesis OMIM:601076
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... ORPHA:99845
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Ureteral atresia, Bilateral renal agenesis, Unilateral renal agenesis OMIM:618845
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administra... OMIM:612462
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hyperphosphatemia ORPHA:36913
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Delayed eruption of teeth, Low urinary cyclic AMP res... ORPHA:94089
Calciphylaxis
Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Bronchiolitis, Recurrent respiratory infections, Ren... OMIM:615993
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Micrognathia, Hypocalcemic seizures, Micropenis, Hypocalcemia, Hyperphosphatemia OMIM:241410
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administra... OMIM:103580
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Focal Segmental Glomerulosclerosis 7
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616002
Sanjad-Sakati Syndrome
Micrognathia, Abnormal dental enamel morphology, Hypocalcemia, Recurrent respiratory infections, ... ORPHA:2323
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, P... ORPHA:411709
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... OMIM:613388
Braddock Syndrome
Micrognathia, Pulmonary fibrosis, Unilateral renal agenesis ORPHA:52047
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis OMIM:612287
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micrognathia, Micropenis, Retrognathia, Unilateral renal agenesis OMIM:618142
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria OMIM:612286
Familial Isolated Hyperparathyroidism
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... ORPHA:99879
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Fanconi Renotubular Syndrome 1
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... OMIM:134600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Thymic Aplasia With Fetal Death
Ureteral agenesis, Pulmonary hypoplasia, Renal agenesis OMIM:274210
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias OMIM:600057
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Azotemia, Hematur... OMIM:104200
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, H... OMIM:101800
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyponatremia, Myoglobinuria, Hypernatremia, Elevated circulating creatine kinase co... ORPHA:94093
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Hypospadias, Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract ... ORPHA:363444
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Proximal tubulopathy, Enamel hypoplasia, Retr... OMIM:614576
Nager Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone, Unilateral renal agenesis ORPHA:245
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperphosphatemia ORPHA:428
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Williams-Beuren Region Duplication Syndrome
Micrognathia, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Decreased urine output, Tubulointerstitial nephritis, Pneumonia,... ORPHA:340
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Horseshoe kidney, Ectopic kidney, Abnormality of the kidney, Unilateral renal agenesis ORPHA:3109
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol... OMIM:137920
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop... ORPHA:157215
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperp... ORPHA:423
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Emanuel Syndrome
Renal hypoplasia, Micrognathia, Broad jaw, Delayed eruption of teeth, Micropenis, Unilateral rena... ORPHA:96170
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Renal dysplasia, Bifid ureter, Decreased numb... OMIM:617641
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Tooth abscess, Hypophosphatemia, Hypocalcemia ORPHA:89937
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Unilateral renal agenesis OMIM:608406
Pseudohypoparathyroidism Type 1C
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Delayed eruption of teeth, Low urinary cy... ORPHA:79444
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Micrognathia, Unilateral renal agenesis ORPHA:1064
Hypophosphatemic Rickets, X-Linked Recessive
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... OMIM:300554
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... OMIM:300009
Primary Fanconi Renotubular Syndrome
Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular ... ORPHA:3337
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Hypocalcemia, Unilateral renal agenesis, ... ORPHA:2237
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Hyperphosphatemia ORPHA:457059
Coach Syndrome 1
Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic kidney diseas... OMIM:216360
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i... OMIM:600740
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis OMIM:274265
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Micrognathia, Renal agenesis OMIM:212780
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Supernumerary tooth ORPHA:3145
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Retrognathia, Unilateral renal agenesis OMIM:619227
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi... OMIM:227810
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Pseudohypoparathyroidism Type 1A
Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Delayed eruption of teeth, Low urinary cy... ORPHA:79443
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Micrognathia, Hydronephrosis, Urethral stenosis, Mandibular prognathia, Renal c... OMIM:614527
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Autosomal Dominant Kenny-Caffey Syndrome
Carious teeth, Hypocalcemic tetany, Hypocalcemic seizures, Persistence of primary teeth, Hyperpho... ORPHA:93325
Juvenile Nephropathic Cystinosis
Renal Fanconi syndrome, Hyponatremia, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Proximal tu... ORPHA:411634
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets OMIM:612089
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Abnormal circulating lipid concentration, Micropenis, Unilateral renal agenesis... OMIM:616541
Cystinosis
Renal tubular dysfunction, Hypokalemia, Hypophosphatemia, Nephropathy, Aminoaciduria, Proteinuria... ORPHA:213
Hypophosphatemic Rickets, X-Linked Dominant
Renal tubular dysfunction, Enamel hypomineralization, Hypophosphatemia, Renal phosphate wasting, ... OMIM:307800
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Abnormal lung lobation, Pelvic kidney, Unilateral renal... OMIM:156810
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Abnormality of the kidney ORPHA:2611
Methylmalonic Acidemia With Homocystinuria Type Cblf
Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, Methylmalonic acidu... ORPHA:79284
Uremic Pruritus
Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate... ORPHA:94059
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:308205
Metaphyseal Chondrodysplasia, Jansen Type
Hyperphosphaturia, Micrognathia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypercalciuria OMIM:156400
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis, Dental malocclusion OMIM:616737
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Renal tubular acidosis, Hypophosp... ORPHA:2088
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Hypoplasia of the nasal bone, Mandibular prognathia, Hypocalcemia, Hyperphosphatemia ORPHA:280651
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis OMIM:618419
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Calcium nephrolithiasis, Hy... OMIM:241530
Colchicine Poisoning
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff... ORPHA:31824
Familial Hypocalciuric Hypercalcemia
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Parathormone-independent increased renal t... ORPHA:405
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Micrognathia, Hydronephrosis, Renal agenesis, Abnormal lung lobati... OMIM:270400
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Elevated circulating creatine kinase concentration, Acute kidney injury, Oliguria, ... ORPHA:466650
Toluene Embryopathy
Abnormal localization of kidney, Micrognathia, Hypoplasia of the zygomatic bone, Hydronephrosis ORPHA:1920
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hypercalcemia, Calcinosis, Aminoaciduria, Hypophosphatemia, Hypercalciuria, Po... OMIM:239200
7Q11.23 Microduplication Syndrome
Hypospadias, Micrognathia, Hydronephrosis, Unilateral renal agenesis, Retrognathia, Dental malocc... ORPHA:96121
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Hypoplasia of the zygomatic bone ORPHA:3074
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphatemia, Renal hamartoma, ... ORPHA:99880
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemic seizures, Hypophosphatemia, Delayed eruption of teeth, En... OMIM:264700
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Parathyroid Carcinoma
Hypercalcemia, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypophosphatemia, Renal hamartoma, ... ORPHA:143
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Pelvic kidney, Abnormal renal collecting system morphology, Retrognathia, Unilateral... ORPHA:468631
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent urinary tract infections, Recurrent aspiration pneumonia, Unilateral renal agenesis ORPHA:221139
Renal Hypodysplasia/Aplasia 1
Renal agenesis, Renal dysplasia, Proteinuria, Retrognathia, Pulmonary hypoplasia OMIM:191830
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Multiple non-erupting secondary teeth, Delayed eruption of primary teeth, Maxillozygomatic hypopl... OMIM:273050
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Hypocalcemic seizures, Hypophosphatemia, Delayed eruption of teeth, Enamel hypoplasia OMIM:277440
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hypokalemia, Abnormal tubul... ORPHA:411629
Raine Syndrome
Micrognathia, Hydronephrosis, Hydroureter, Mandibular prognathia, Hypophosphatemia, Enamel hypopl... OMIM:259775
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Hypoplasia of the premaxilla, Unilateral renal agenesis ORPHA:2673
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia ORPHA:398063
Cockayne Syndrome Type 3
Carious teeth, Renal hypoplasia, Hydronephrosis, Urinary retention, Enamel hypoplasia, Unilateral... ORPHA:90324
Acrofacial Dysostosis 1, Nager Type
Micrognathia, Trismus, Retrognathia, Unilateral renal agenesis OMIM:154400
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Nephrolithiasis, Hypocalcemia ORPHA:93160
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Hydronephrosis, Pelvic kidney, Renal cyst, Micropenis, Unilateral renal agenesis ORPHA:464311
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemic seizures, Hypophosphatemia, Delayed eruption of teeth, En... ORPHA:289157
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hydronephrosis, Pelvic kidney, Renal cyst, Micropenis, Unilateral renal agenesis ORPHA:464306
Cockayne Syndrome
Carious teeth, Renal hypoplasia, Nephrotic syndrome, Abnormal renal physiology, Hyperuricemia, Un... ORPHA:191
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Hydroureter, Retrognathia, Unilateral renal agenesis OMIM:619194
Penoscrotal Transposition
Hypospadias, Micrognathia, Abnormality of the ureter, Renal agenesis, Renal dysplasia, Abnormalit... ORPHA:2842
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Total anomalous pulmonary venous return, Unilateral renal agenesis, ... ORPHA:487796
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone, Glomerulopathy, Proteinuria, Renal insuf... ORPHA:2715
Oncogenic Osteomalacia
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Hypocalcemia ORPHA:352540
Hereditary Fructose Intolerance
Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Hypermagnesemia, Renal insufficiency ORPHA:469
Zttk Syndrome
Horseshoe kidney, Unilateral lung agenesis, Unilateral renal agenesis, Hypoplasia of the maxilla,... OMIM:617140
Leopard Syndrome 1
Mandibular prognathia, Micropenis, Hypospadias, Unilateral renal agenesis OMIM:151100
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone ORPHA:2835
Serkal Syndrome
Hypospadias, Renal agenesis, Abnormal penis morphology, Hypoplasia of the bladder, Pulmonary hypo... ORPHA:139466
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Chordee, Supernumerary tooth, Recurrent urinary tract infections, Micropenis, Retrog... ORPHA:268261
Opsismodysplasia
Renal phosphate wasting, Recurrent respiratory infections, Hypophosphatemia OMIM:258480
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiectasis, Pyelonephritis, Bronchiolitis, Unilateral r... ORPHA:90348
Acro-Renal-Mandibular Syndrome
Micrognathia, Abnormal lung lobation, Hypoplasia of the zygomatic bone, Renal hypoplasia/aplasia,... ORPHA:958
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Abnormality of the urinary system, Micropenis, Unilateral renal agenesis, Dilatation... ORPHA:95699
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Abnormal dental enamel morphology, Proximal renal tubular acidosis, Delayed erupti... ORPHA:534
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Micrognathia, Abnormality of the ureter, Hypoplasia of the zygomatic bone, Abnorma... ORPHA:3253
Hypophosphatemic Rickets
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Tooth abscess, Hypocalciuri... ORPHA:437
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Unilateral renal agenesis ORPHA:261337
X-Linked Mandibulofacial Dysostosis
Micrognathia, Abnormality of the pulmonary artery, Hypoplasia of the zygomatic bone ORPHA:1131
Digeorge Syndrome
Micrognathia, Hydronephrosis, Renal dysplasia, Unilateral renal agenesis, Hypocalcemia OMIM:188400
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypoplasia of the zygomatic bone, Hypoplasia of penis ORPHA:1295
Radio-Renal Syndrome
Micrognathia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Multicystic kidney dyspl... ORPHA:3015
Fructose Intolerance, Hereditary
Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Proximal rena... OMIM:229600
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Carious teeth, Hypoplasia of the zygomatic bone, Mandibular prognathia ORPHA:1110
Prolidase Deficiency
Carious teeth, Micrognathia, Hypoplasia of the zygomatic bone, Recurrent cystitis, Recurrent resp... ORPHA:742
Distal 17P13.1 Microdeletion Syndrome
Hypoplasia of the zygomatic bone, Retrognathia ORPHA:319171
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney OMIM:602200
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of renal excretion, Hyperphosphaturia, Delayed eruption of teeth, Renal phosphate was... ORPHA:289176
Mccune-Albright Syndrome
Hyperphosphaturia, Renal tubular dysfunction, Hypophosphatemia, Renal phosphate wasting, Dental m... ORPHA:562
Cleidocranial Dysplasia
Carious teeth, Micrognathia, Mandibular prognathia, Hypoplasia of the zygomatic bone, Abnormal de... ORPHA:1452
Acrofacial Dysostosis, Catania Type
Carious teeth, Microretrognathia, Hypospadias, Hypoplasia of the zygomatic bone ORPHA:1786
Proboscis Lateralis
Ureteral agenesis, Aplasia/Hypoplasia of the maxilla, Duplication of renal pelvis, Unilateral ren... ORPHA:141099
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Horseshoe kidney, Unilateral lung agenesis, Unilateral renal agenesis, Hypoplasia of the maxilla,... ORPHA:500150
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone ORPHA:1778
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Pallister-Hall Syndrome
Hypospadias, Abnormal lung lobation, Renal dysplasia, Recurrent upper and lower respiratory tract... ORPHA:672
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Renal agenesis OMIM:192050
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone ORPHA:710
Fibrous Dysplasia Of Bone
Abnormal mandible morphology, Hypercalcemia, Hypophosphatemia, Abnormality of the maxilla ORPHA:249
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Micrognathia, Urinary urgency, Mandibular prognathia, Pelvic kidney, Delayed eruption of teeth, H... OMIM:619503
X-Linked Hypophosphatemia
Hypophosphatemia, Tooth abscess, Hypocalciuria, Renal phosphate wasting, Abnormal dentin morpholo... ORPHA:89936
Antley-Bixler Syndrome
Hypoplasia of the zygomatic bone, Abnormal renal morphology ORPHA:83
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Hypoplasia of penis, Retrogn... ORPHA:1812
Thyrotoxic Periodic Paralysis
Hyperkalemia, Episodic hypokalemia, Urinary retention, Mildly elevated creatine kinase, Decreased... ORPHA:79102
Dysostosis, Stanescu Type
Carious teeth, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Abnormal dental ename... ORPHA:1798
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Hypospadias, Renal agenesis, Pulmonary artery stenosis, Hypoplasia of the bladder, Bilateral lung... OMIM:611812
Pearson Syndrome
Hypokalemia, Lacticaciduria, Renal cyst, Hypophosphatemia, Glycosuria, Hyperalaninemia, Hypomagne... ORPHA:699
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Mandibular prognathia, Ren... ORPHA:93111
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Delayed eruption of teeth, Hypocalcemia, Pulmonary artery stenosis, Recurrent r... ORPHA:667
Flat Face-Microstomia-Ear Anomaly Syndrome
Micrognathia, Hypoplasia of the zygomatic bone ORPHA:1968
8Q24.3 Microdeletion Syndrome
Bilateral renal hypoplasia, Abnormal lung lobation, Mesiodens, Pelvic kidney, Unilateral renal ag... ORPHA:508488
Marshall Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:560
Holoprosencephaly
Hyponatremia, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Abnormality of the urinary sy... ORPHA:2162
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria, Recurrent pneumonia, Retrognathia, Unilateral renal agenesis ORPHA:99646
Cohen Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:193
Hajdu-Cheney Syndrome
Hypospadias, Micrognathia, Hypoplasia of the zygomatic bone, Abnormal mandible morphology, Multip... ORPHA:955
Orofaciodigital Syndrome Type 1
Micrognathia, Hydronephrosis, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology... ORPHA:2750
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoamylasemia, Reduced C-peptide level, Hypoplasia of the zygomatic bone ORPHA:556955
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Retrognathia, ... ORPHA:861
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypoplasia of the zygomatic bone ORPHA:1555
Cardiofaciocutaneous Syndrome
Hydronephrosis, Hypoplasia of the zygomatic bone ORPHA:1340
Williams Syndrome
Carious teeth, Peripheral pulmonary artery stenosis, Abnormal dental enamel morphology, Hypercalc... ORPHA:904
Hypoglossia-Hypodactyly Syndrome
Micrognathia, Hypoplasia of the zygomatic bone ORPHA:989
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Hypoplasia of penis ORPHA:920
Charge Syndrome
Horseshoe kidney, Hydronephrosis, Hypoplasia of the zygomatic bone, Delayed eruption of teeth, Mi... ORPHA:138

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 Fbxw15

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 Fbxw15.

No publications found that use IMPC mice or data for Fbxw15.

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MGI Allele Allele Type Produced
Fbxw15em1(IMPC)Ccpcz Exon Deletion Mice

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