Gene: Fbln7 MGI:1917620

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Gene Summary

Name:
fibulin 7
Synonyms:
1600015H20Rik

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.

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 50% (2 of 4)
Cerebellum  Wholemount images heterozygote 50% (2 of 4)
Chest bone  Wholemount images heterozygote 50% (2 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Kidney  Wholemount images  Section images heterozygote 75% (3 of 4)
Midbrain  Wholemount images  Section images heterozygote 75% (3 of 4)
Pituitary gland  Wholemount images heterozygote 25% (1 of 4)
Prostate gland  Section images heterozygote 25% (1 of 4)
Testis  Section images heterozygote 50% (2 of 4)
Uterus  Wholemount images  Section images heterozygote 50% (2 of 4)
Vagina  Section images heterozygote 25% (1 of 4)
Vas deferens  Section images heterozygote 50% (2 of 4)
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 4)
Bone marrow N/A heterozygote 0.0% (0 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 50% (2 of 4)
Cerebral cortex N/A heterozygote Not available
Colon N/A heterozygote 50% (2 of 4)
Diaphragm N/A heterozygote 0.0% (0 of 4)
Duodenum N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 4)
Harderian gland N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 50% (2 of 4)
Jejunum N/A heterozygote 25% (1 of 4)
Large intestine N/A heterozygote Not available
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote 0.0% (0 of 4)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Parotid gland N/A heterozygote 0.0% (0 of 4)
Penis N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 4)
Sciatic nerve N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (2 of 4)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 4)
Submandibular gland N/A heterozygote 0.0% (0 of 4)
Thymus N/A heterozygote 50% (2 of 4)
Thyroid gland N/A heterozygote 25% (1 of 4)
Tongue N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 4)
Urinary bladder N/A heterozygote 0.0% (0 of 4)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 4)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

21 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

11 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Wholemount

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Fbln7 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 Fbln7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... OMIM:616963
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercal... OMIM:300555
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Renal magnesium wasting, Episodic hypokalemia, Hypomagnesemia, Nephrocal... ORPHA:564178
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri... OMIM:618913
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Increas... ORPHA:94088
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia OMIM:239199
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Azotemia, Familial
Azotemia OMIM:109160
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Glomerulonephritis, Glomerular baseme... OMIM:104200
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology OMIM:602114
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Renal Tubular Acidosis Iii
Nephrocalcinosis, Hypokalemia, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Dent Disease
Renal insufficiency, Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperp... ORPHA:1652
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Tubulointerstitial Nephritis With Uveitis
Glomerulonephritis, Elevated circulating creatinine concentration, Acute tubulointerstitial nephr... OMIM:607665
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena... ORPHA:99879
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis OMIM:143880
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Medullary nephrocalcinosis OMIM:617993
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Renal insufficiency, Nephritis OMIM:162000
Paget Disease Of Bone 6
Nephrocalcinosis OMIM:616833
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis OMIM:179800
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... ORPHA:63
C3 Glomerulopathy
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat... ORPHA:329918
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Increased circulating renin level, Medullary nephrocalcinosis, Hypercalci... OMIM:300971
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Recurrent urinary tract infections, Hyperuricem... OMIM:248250
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Hyperoxaluria, Enuresis, Decreased glomer... ORPHA:93598
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium,... OMIM:602522
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:611590
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... OMIM:263200
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Cryoglobulinemia, Familial Mixed
Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn... OMIM:123550
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Thrombotic Thrombocytopenic Purpura
Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Proteinuria ORPHA:54057
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis OMIM:613312
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypophosphatemic ric... OMIM:300554
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Conjugated hyperbilirubinemia, Nephropathy OMIM:613404
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ... OMIM:220150
Medullary cystic kidney disease 2
Multiple renal cysts, Hyperuricemia, Enuresis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:603860
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Nephrocalcinosis OMIM:617370
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Nephrocalcinosis, Decreased renal tubular phosphate excretion, Hyperphosphatemia, Inc... OMIM:211900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro... OMIM:614376
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hyperphosphaturia, Hypophosphatemic rickets, Increased circulating beta-C-termi... ORPHA:157215
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis OMIM:615633
Preeclampsia
Acute kidney injury, Elevated circulating creatinine concentration, Chronic kidney disease, Abnor... ORPHA:275555
Xanthinuria, Type Ii
Hypouricemia, Renal insufficiency, Nephrolithiasis OMIM:603592
Apparent Mineralocorticoid Excess
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal urine sodium concen... ORPHA:320
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Conjugated hyperbilirubinemia, Nephropathy OMIM:208085
Coenzyme Q10 Deficiency, Primary, 8
Abnormal renal corticomedullary differentiation, Renal dysplasia, Elevated circulating creatinine... OMIM:616733
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Glycosuria, Renal tu... ORPHA:2088
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Chronic ki... ORPHA:94059
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalciuria, Phosphoethanolaminur... OMIM:241500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creatinine conce... OMIM:235400
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Hematuria, Ele... ORPHA:231111
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia ORPHA:557003
Hypouricemia, Renal, 2
Hypouricemia, Nephrolithiasis OMIM:612076
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat... ORPHA:2260
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis OMIM:232500
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Increased blood urea nitrog... ORPHA:49041
Tyrosinemia, Type I
Hypertyrosinemia, Enlarged kidney, Hypophosphatemic rickets, Glomerular sclerosis, Hypermethionin... OMIM:276700
Amelogenesis Imperfecta, Type Ig
Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis OMIM:204690
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis OMIM:611087
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot... ORPHA:839
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Macrosc... ORPHA:251004
Familial Parathyroid Adenoma
Hypophosphatemia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Calcium ... ORPHA:99877
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia OMIM:300323
Coach Syndrome 2
Elevated circulating creatinine concentration, Hyperechogenic kidneys OMIM:619111
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias... ORPHA:411536
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr... ORPHA:730
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Nephrocalcinosis OMIM:156400
Microvillus Inclusion Disease
Abnormal renal physiology, Nephrocalcinosis ORPHA:2290
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis ORPHA:500533
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hypercalciuria, Nephrocalcinosis, Renal cyst OMIM:615398
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:243910
Primary Parathyroid Hyperplasia
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Renal insufficiency, Nephrocalcinosis, Nephrolit... ORPHA:99878
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Tubulointerstitial fibrosis, Enlarged kidney, Hyperuricemia, Hypertriglycer... ORPHA:79259
Cystinuria
Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia ORPHA:214
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... OMIM:223900
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Abnormal renal resorption, Hypocalcemic tetany, Hypercalciuria, Hypermagnesiuria, H... ORPHA:73224
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Elevated... OMIM:137920
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:601678
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Nephrocalcinosis, Renal cyst, 3-Methylglutaconic aciduria ORPHA:445038
Infantile Bartter Syndrome With Sensorineural Deafness
Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased circulating re... ORPHA:89938
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Hyperoxaluria, Hypercalciur... ORPHA:416
Aapoaiv Amyloidosis
Renal amyloidosis, Elevated circulating creatinine concentration, Glomerular sclerosis, Chronic k... ORPHA:439232
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalciuria, Renal hamartoma, Hypercalcemia, Renal cyst, Nephroblastoma, Inf... ORPHA:99880
Enamel-Renal Syndrome
Impaired renal concentrating ability, Hypocalciuria, Enuresis, Nephropathy, Renal insufficiency, ... ORPHA:1031
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hypomagnesemia, Nephrocalcinosis, Hyperphosphatemia ORPHA:428
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Renal insufficiency, Nephrocalcinosis OMIM:259900
Parathyroid Carcinoma
Hypophosphatemia, Hypercalciuria, Renal hamartoma, Hypercalcemia, Renal cyst, Nephroblastoma, Inf... ORPHA:143
Dopamine Beta-Hydroxylase Deficiency
Elevated urinary dopamine, Nocturia, Elevated circulating creatinine concentration, Increased blo... ORPHA:230
Pauci-Immune Glomerulonephritis
Acute kidney injury, Nephrotic range proteinuria, Elevated circulating creatinine concentration, ... ORPHA:93126
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Abnormality of the urinary system, Hypertriglyceridemia, Hypercalciuria, R... ORPHA:369837
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour... ORPHA:411634
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell hypertrophy/hyperpla... OMIM:241200
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia, Hypercalciuria OMIM:242050
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Aminoaciduria OMIM:616084
Gapo Syndrome
Tubulointerstitial fibrosis OMIM:230740
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated circulating creatinine concen... ORPHA:91547
Rabson-Mendenhall Syndrome
Increased C-peptide level, Hypokalemia, Long penis, Nephrocalcinosis ORPHA:769
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis OMIM:607944
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis OMIM:240300
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Multiple renal cysts, Hematuria, Abnormal ... ORPHA:534
Familial Tumoral Calcinosis
Nephrocalcinosis ORPHA:53715
Hypophosphatemic Rickets
Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Hypercalciuria, Hype... ORPHA:437
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis OMIM:618005
Cockayne Syndrome Type 1
Renal insufficiency, Increased blood urea nitrogen, Proteinuria ORPHA:90321
Intellectual Disability-Strabismus Syndrome
Hypospadias, Micropenis, Medullary nephrocalcinosis ORPHA:363528
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Elevated circulating creatinine concentration, Hyperbilirubinemia, Acute ... ORPHA:542323
Shwachman-Diamond Syndrome 1
Nephrocalcinosis OMIM:260400
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Abnormal uret... ORPHA:449395
Pseudoxanthoma Elasticum
Nephrocalcinosis ORPHA:758
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Hematuria, Proteinuria ORPHA:90060
Congenital Disorder Of Glycosylation, Type Iit
Urinary incontinence, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol ... OMIM:618885
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Vesicoureteral reflux, Nephroblastoma, Nephrocalcinosis, N... OMIM:130650
Trisomy 8P
Fetal pyelectasis, Nephrocalcinosis, Micropenis, Hydronephrosis ORPHA:264450
Leprechaunism
Long penis, Enlarged kidney, Increased circulating renin level, Hypercalciuria, Hypokalemia, Neph... ORPHA:508
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Hypercalciuria, Renal dysplasia, Nephrocalcinosis OMIM:300990
Multiple Myeloma
Acute kidney injury, Elevated circulating creatinine concentration, Hyperproteinemia, Nephropathy... ORPHA:29073
Familial Mediterranean Fever
Nephrocalcinosis, Proteinuria, Nephropathy, Nephrotic syndrome ORPHA:342
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Floating-Harbor Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Congenital posterior ... ORPHA:2044
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital posterior urethral valve OMIM:136140
Williams Syndrome
Multiple renal cysts, Renal hypoplasia, Renovascular hypertension, Recurrent urinary tract infect... ORPHA:904
Goodpasture Syndrome
Erythrocyte cylindruria, Increased blood urea nitrogen, Cylindruria, Glomerulonephritis, Macrosco... OMIM:233450
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Arthrogryposis Multiplex Congenita 5
Medullary nephrocalcinosis OMIM:618947
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Recurrent urinary tract infections, ... ORPHA:36234
Williams-Beuren Syndrome
Abnormal renal morphology, Renal hypoplasia, Recurrent urinary tract infections, Enuresis, Bladde... OMIM:194050
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyponatremia, Hemoglo... ORPHA:90038
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst OMIM:617478
Cardiogenic Shock
Oliguria, Elevated circulating creatinine concentration ORPHA:97292
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Oliguria, Abnormal tubulointerstitial morpholo... ORPHA:340
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Mild proteinuria, Renal tubular epithelial necrosis, Elevated circul... ORPHA:91500
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Hypercalciuria, Microscopic nephrocalcinosis, Hypospadias OMIM:219721
Infantile Nephropathic Cystinosis
Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal Fanconi syndrome, Am... ORPHA:411629
Sarcoidosis
Hypercalciuria, Tubulointerstitial nephritis, Hypercalcemia, Renal insufficiency, Nephrocalcinosi... ORPHA:797
Doors Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... ORPHA:79500
Generalized Arterial Calcification Of Infancy
Hyperphosphaturia, Hypophosphatemic rickets, Cortical nephrocalcinosis, Medullary nephrocalcinosi... ORPHA:51608

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 Fbln7

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 Fbln7.

No publications found that use IMPC mice or data for Fbln7.

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MGI Allele Allele Type Produced
Fbln7tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Fbln7tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Fbln7tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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