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Gene: Btbd1 MGI:1933765

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Gene Summary

Name:
BTB (POZ) domain containing 1
Synonyms:
1190005H08Rik

Order Alleles

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
abnormal kidney morphology Btbd1tm1a(KOMP)Wtsi HOM Early adult 0.00
decreased circulating total protein level Btbd1tm1a(KOMP)Wtsi HOM Early adult 2.32×10-05
single kidney Btbd1tm1a(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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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
Adrenal gland  Section images heterozygote 0.0% (0 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Bone  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 0.0% (0 of 2)
Brown adipose tissue  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 0.0% (0 of 2)
Cerebral cortex  Section images heterozygote 0.0% (0 of 2)
Chest bone  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 0.0% (0 of 2)
Cranium  Section images heterozygote 0.0% (0 of 2)
Diaphragm  Section images heterozygote 0.0% (0 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 0.0% (0 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gall bladder  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hindlimb  Section images heterozygote 0.0% (0 of 2)
Hippocampus  Section images heterozygote 0.0% (0 of 2)
Hypothalamus  Section images heterozygote 0.0% (0 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 50% (1 of 2)
Liver  Section images heterozygote 50% (1 of 2)
Lower urinary tract  Section images heterozygote Ambiguous
Lung  Section images heterozygote 50% (1 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 0.0% (0 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Oral epithelium  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Parathyroid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 0.0% (0 of 2)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 2)
Peyer's patch  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 0.0% (0 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 0.0% (0 of 2)
Skeletal muscle  Section images heterozygote 0.0% (0 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 0.0% (0 of 2)
Spleen  Section images heterozygote 0.0% (0 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 0.0% (0 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 50% (1 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 0.0% (0 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote Ambiguous
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 0.0% (0 of 2)
White adipose tissue  Section images heterozygote 0.0% (0 of 2)
Blood N/A heterozygote Not available
Bone marrow N/A heterozygote Not available
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Main olfactory bulb N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote Not available
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Sublingual gland N/A heterozygote Not available
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote Not available
Vas deferens N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forearm N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Not available
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Upper arm N/A heterozygote 100% (2 of 2)
Upper leg N/A heterozygote 100% (2 of 2)
Vibrissa N/A heterozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
cranium
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thalamus 0.0%
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
cranium 1.56% (1 of 64)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
external ear 1.35% (1 of 74)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forearm 0.33% (1 of 305)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
humerus pre-cartilage condensation 1.56% (1 of 64)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 506)
lower leg 0.33% (1 of 305)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
placenta 16.67% (7 of 42)
radius-ulna pre cartilage condensation 1.56% (1 of 64)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
upper arm 0.33% (1 of 305)
upper leg 0.33% (1 of 305)
vibrissa 1.35% (1 of 74)

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

122 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Human diseases caused by Btbd1 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 Btbd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... OMIM:619155
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Nephrotic Syndrome, Type 1
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... OMIM:256300
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Renal Hypoplasia
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... ORPHA:93101
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... OMIM:616002
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Ureteral atresia, Unilateral renal agenesis, Bilateral renal agenesis OMIM:618845
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... OMIM:613092
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Oligomeganephronia
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Renal agenesis, Unilateral renal agenesis OMIM:601076
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... OMIM:267700
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... OMIM:143400
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Renal Agenesis
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... ORPHA:411709
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis OMIM:274265
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic kidney, Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis ORPHA:3109
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Johanson-Blizzard Syndrome
Hypospadias, Hypoproteinemia, Hypoplasia of penis, Hydronephrosis ORPHA:2315
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis OMIM:618142
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Micropenis, Hydronephrosis OMIM:235255
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... OMIM:603553
Renal Cysts And Diabetes Syndrome
Hyperuricemia, Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral ... OMIM:137920
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia, Abnormal renal morphology, Micropenis, Hydronephrosis ORPHA:1655
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:613680
Dengue Fever
Hypoproteinemia ORPHA:99828
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... ORPHA:26793
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Hyperechogenic kidneys, Unilateral renal agenesis, Elevated circulating cre... OMIM:614576
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Hydronephrosis OMIM:609757
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... OMIM:617641
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Unilateral renal agenesis, Hydronephrosis OMIM:618494
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Vesicoureteral reflux, Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Braddock Syndrome
Unilateral renal agenesis ORPHA:52047
Coach Syndrome 1
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Unilateral renal agenesis, ... OMIM:216360
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis ORPHA:3306
Intellectual Developmental Disorder, Autosomal Dominant 36
Unilateral renal agenesis OMIM:616362
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... OMIM:113650
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Nephronophthisis 13
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp... OMIM:614377
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... ORPHA:2237
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Unilateral renal agenesis, Hypospa... ORPHA:363444
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Unilateral renal ag... ORPHA:79284
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis, Recurrent urinary tract infections OMIM:609029
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Omenn Syndrome
Hypoproteinemia OMIM:603554
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Unilateral renal agenesis, Ectopic kidney, Renal hypopl... OMIM:616541
Pierson Syndrome
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoproteinemia, Diffuse mesangial sclerosis,... OMIM:609049
Emanuel Syndrome
Renal hypoplasia, Micropenis, Unilateral renal agenesis ORPHA:96170
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis OMIM:619227
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Bifid Nose With Or Without Anorectal And Renal Anomalies
Renal agenesis, Unilateral renal agenesis OMIM:608980
Schizophrenia 1
Ectopic kidney, Renal agenesis, Partially duplicated kidney OMIM:181510
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... OMIM:174000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis OMIM:619951
Shashi-Pena Syndrome
Unilateral renal agenesis OMIM:617190
Multiple Myeloma
Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder, Nephropathy, Hypercalcemia, ... ORPHA:29073
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia ORPHA:167
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Renal agenesis, Renal dysplasia ORPHA:2578
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis OMIM:616737
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Stag... OMIM:614527
Liver Disease, Severe Congenital
Aminoaciduria, Hyperalaninemia, Recurrent urinary tract infections, Elevated hepatic iron concent... OMIM:619991
Gaisböck Syndrome
Hyperuricemia, Hypernatriuria, Increased circulating renin level, Hypercholesterolemia, Nephrocal... ORPHA:90041
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia, Unilateral renal agenesis OMIM:101800
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Micropenis, Hydronephrosis ORPHA:464311
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Unilateral renal agenesis, Recurrent urinary tract infections ORPHA:221139
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Elevated 8(9)-cholestenol, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Hydronephrosis OMIM:308050
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Unilateral renal agenesis, Hydronephrosis ORPHA:96121
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Renal cyst, Hypospadias, Pelvic kidney, Micropenis, Hydronephrosis ORPHA:464306
Smith-Lemli-Opitz Syndrome
Renal agenesis, Unilateral renal agenesis, Renal cyst, Hypocholesterolemia, Hypospadias, Duplicat... OMIM:270400
Ventriculomegaly With Defects Of The Radius And Kidney
Ectopic kidney, Renal agenesis, Horseshoe kidney, Ureteral duplication OMIM:602200
Cockayne Syndrome Type 3
Urinary retention, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Renal hypoplasia, ... ORPHA:90324
Fanconi Anemia, Complementation Group L
Renal hypoplasia, Micropenis, Unilateral renal agenesis OMIM:614083
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microphallus, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Abnormal renal collecting sy... ORPHA:468631
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hydroureter, Unilateral renal agenesis, Bilateral renal agenesis OMIM:619194
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis ORPHA:2673
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis OMIM:620024
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Vesicoureteral reflux, Unilateral renal agenesis, Hypospadias, Dilatation of the renal pelvis, Ab... ORPHA:95699
Cockayne Syndrome
Urinary incontinence, Hyperuricemia, Nephrotic syndrome, Neurogenic bladder, Unilateral renal age... ORPHA:191
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis OMIM:213980
Scalp-Ear-Nipple Syndrome
Renal hypoplasia, Renal insufficiency, Pyelonephritis, Unilateral renal agenesis OMIM:181270
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Hydronephrosis ORPHA:487796
Myoectodermal Gonadal Dysgenesis Syndrome
Unilateral renal agenesis OMIM:618419
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Leopard Syndrome 1
Micropenis, Hypospadias, Unilateral renal agenesis OMIM:151100
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Recurrent urinary tract infections, Unilateral renal agenesis, Hypospadias, Dilatation of the ren... ORPHA:268261
Zttk Syndrome
Horseshoe kidney, Polyuria, Unilateral renal agenesis OMIM:617140
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis ORPHA:457284
Fraser Syndrome 2
Aplasia of the bladder, Renal agenesis, Renal hypoplasia OMIM:617666
Acrofacial Dysostosis 1, Nager Type
Unilateral renal agenesis OMIM:154400
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis ORPHA:261337
Autosomal Dominant Cutis Laxa
Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis ORPHA:90348
8Q24.3 Microdeletion Syndrome
Vesicoureteral reflux, Abnormality of the kidney, Unilateral renal agenesis, Pelvic kidney, Bilat... ORPHA:508488
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis ORPHA:141099
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc... ORPHA:93111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Urinary urgency, Unilateral renal agenesis, Pelvic kidney, Hypocalcemia, Hypomagnesemia, Micropenis OMIM:619503
Digeorge Syndrome
Renal dysplasia, Hypocalcemia, Unilateral renal agenesis, Renal insufficiency, Hydronephrosis OMIM:188400
Pallister-Hall Syndrome
Bilateral renal agenesis, Renal dysplasia, Unilateral renal agenesis, Ectopic kidney, Hypospadias... ORPHA:672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Bilateral renal dysplasia, Horseshoe kidney ORPHA:500150
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, Hypospa... OMIM:308205
Leptospirosis
Acute kidney injury, Hyperproteinemia, Cellular urinary casts ORPHA:509
Lumbar Syndrome
Vesicoureteral reflux, Renal duplication, Renal agenesis, Hypospadias, Bladder exstrophy, Micropenis ORPHA:83628
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
D-2-hydroxyglutaric aciduria, Unilateral renal agenesis ORPHA:99646

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 Btbd1

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 Btbd1.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Btbd11tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Btbd11tm1a(EUCOMM)Wtsi Btbd12tm1a(EUCOMM)Wtsi PMC6459510
Molecular characterization of mutant mouse strains generated from the EUCOMM/KOMP-CSD ES cell resource. Mammalian genome : official journal of the International Mammalian Genome Society (August 2013) Btbd11tm1a(EUCOMM)Wtsi PMC3745610

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MGI Allele Allele Type Produced
Btbd1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Btbd1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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