Gene Summary

Name:
BTB domain containing 9
Synonyms:
1700023F20Rik

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
increased circulating cholesterol level Btbd9tm1b(EUCOMM)Wtsi HOM Early adult 3.09×10-08
decreased body length Btbd9tm1b(EUCOMM)Wtsi HOM   Early adult 2.60×10-05
increased circulating HDL cholesterol level Btbd9tm1b(EUCOMM)Wtsi HOM Early adult 1.93×10-08
increased fasting circulating glucose level Btbd9tm1b(EUCOMM)Wtsi HOM Early adult 1.42×10-05
decreased grip strength Btbd9tm1b(EUCOMM)Wtsi HOM Early adult 3.50×10-09

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 5)
Aorta  Section images heterozygote 0.0% (0 of 5)
Bone  Section images heterozygote 0.0% (0 of 5)
Brain  Section images heterozygote 20% (1 of 5)
Brainstem  Section images heterozygote 0.0% (0 of 5)
Brown adipose tissue  Section images heterozygote 0.0% (0 of 5)
Cartilage tissue  Section images heterozygote 0.0% (0 of 5)
Cecum  Section images heterozygote 0.0% (0 of 5)
Cerebellum  Section images heterozygote 20% (1 of 5)
Cerebral cortex  Section images heterozygote 0.0% (0 of 5)
Chest bone  Section images heterozygote 0.0% (0 of 5)
Colon  Section images heterozygote 0.0% (0 of 5)
Cranium  Section images heterozygote 0.0% (0 of 5)
Diaphragm  Section images heterozygote 0.0% (0 of 5)
Duodenum  Section images heterozygote 0.0% (0 of 3)
Esophagus  Section images heterozygote 0.0% (0 of 5)
Eye  Section images heterozygote 40% (2 of 5)
Gall bladder  Section images heterozygote 20% (1 of 5)
Harderian gland  Section images heterozygote 20% (1 of 5)
Heart  Section images heterozygote 40% (2 of 5)
Hindlimb  Section images heterozygote 40% (2 of 5)
Hippocampus  Section images heterozygote 20% (1 of 5)
Hypothalamus  Section images heterozygote 0.0% (0 of 5)
Ileum  Section images heterozygote 0.0% (0 of 3)
Jejunum  Section images heterozygote 0.0% (0 of 3)
Kidney  Wholemount images  Section images heterozygote 80% (4 of 5)
Large intestine  Section images heterozygote 0.0% (0 of 5)
Liver  Section images heterozygote 0.0% (0 of 5)
Lower urinary tract  Section images heterozygote 0.0% (0 of 5)
Lung  Section images heterozygote 0.0% (0 of 5)
Lymph node  Section images heterozygote 0.0% (0 of 5)
Mammary gland  Section images heterozygote 0.0% (0 of 5)
Olfactory lobe  Section images heterozygote 0.0% (0 of 5)
Oral epithelium  Section images heterozygote 0.0% (0 of 5)
Ovary  Section images heterozygote Not available
Oviduct  Section images heterozygote 20% (1 of 5)
Pancreas  Section images heterozygote 0.0% (0 of 5)
Parathyroid gland  Section images heterozygote 20% (1 of 5)
Penis  Section images heterozygote 0.0% (0 of 5)
Peripheral nervous system  Section images heterozygote 0.0% (0 of 5)
Peyer's patch  Section images heterozygote 0.0% (0 of 5)
Pituitary gland  Section images heterozygote 0.0% (0 of 5)
Prostate gland  Section images heterozygote 20% (1 of 5)
Quadriceps  Section images heterozygote 0.0% (0 of 3)
Skeletal muscle  Section images heterozygote 0.0% (0 of 5)
Skin  Section images heterozygote 40% (2 of 5)
Small intestine  Section images heterozygote 0.0% (0 of 5)
Spinal cord  Section images heterozygote 0.0% (0 of 5)
Spleen  Section images heterozygote 0.0% (0 of 5)
Stomach  Section images heterozygote 0.0% (0 of 5)
Striatum  Section images heterozygote 0.0% (0 of 5)
Submandibular gland  Section images heterozygote 0.0% (0 of 5)
Testis  Section images heterozygote Not available
Thymus  Section images heterozygote 0.0% (0 of 5)
Thyroid gland  Section images heterozygote 40% (2 of 5)
Tongue  Section images heterozygote 20% (1 of 5)
Trachea  Section images heterozygote 0.0% (0 of 5)
Urinary bladder  Section images heterozygote 0.0% (0 of 5)
Uterus  Section images heterozygote 20% (1 of 5)
Vagina  Section images heterozygote Not available
Vascular system  Section images heterozygote 0.0% (0 of 5)
White adipose tissue  Section images heterozygote 0.0% (0 of 5)
Blood N/A heterozygote 0.0% (0 of 5)
Bone marrow N/A heterozygote 0.0% (0 of 5)
Epididymis N/A heterozygote Not available
Gonadal fat pad N/A heterozygote Not available
Main olfactory bulb N/A heterozygote 0.0% (0 of 5)
Mesenteric adipose tissue N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 5)
Midbrain N/A heterozygote Not available
Parotid gland N/A heterozygote 0.0% (0 of 5)
Sciatic nerve N/A heterozygote 0.0% (0 of 5)
Stomach pyloric region N/A heterozygote 0.0% (0 of 5)
Sublingual gland N/A heterozygote 0.0% (0 of 5)
Thalamus N/A heterozygote Not available
Trigeminal V nerve N/A heterozygote 0.0% (0 of 5)
Vas deferens N/A heterozygote 0.0% (0 of 5)
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 Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
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 Ambiguous
Oral cavity N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
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 0.0%
aorta 0.0%
blood
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
cranium
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
central nervous system ganglion Ambiguous
cranium Ambiguous
ear 0.0%
embryo 0.0%
external ear Ambiguous
eye 0.0%
footplate 0.0%
forearm Ambiguous
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
humerus pre-cartilage condensation Ambiguous
inner ear Ambiguous
liver 0.0%
lower leg Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
radius-ulna pre cartilage condensation Ambiguous
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
upper arm Ambiguous
upper leg Ambiguous
vibrissa Ambiguous

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

265 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

28 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Embryo LacZ

LacZ images wholemount

8 Images

Human diseases caused by Btbd9 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 Btbd9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia OMIM:232700
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... OMIM:620211
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Lipodystrophy, Congenital Generalized, Type 3
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia OMIM:612526
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner... OMIM:614063
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... OMIM:615812
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... OMIM:618858
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia ORPHA:329249
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Disinhibition, Inappropriate laughter, Abnormal repetitive m... OMIM:172700
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Galactokinase Deficiency
Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms OMIM:619150
Laron Syndrome
Hypercholesterolemia, Hypoglycemia ORPHA:633
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... OMIM:606176
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Progressive language deterioration, Mental deter... ORPHA:168782
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia ORPHA:77296
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Frontotemporal dementia, Dysphagia OMIM:612069
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Maturity-onset diabetes of the young OMIM:616222
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... ORPHA:2457
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolem... ORPHA:528
Foxg1 Syndrome
Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Cognitive impairment, Abnormal r... ORPHA:561854
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal... OMIM:617695
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Increased LDL c... ORPHA:412
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... OMIM:604367
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:96184
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... OMIM:151660
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Ataxia, Confusion, Hyperglutaminemia, Hyperammonemia, Agitation, Cognitive ... ORPHA:927
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, R... ORPHA:79240
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv... OMIM:618917
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Dementia, Ataxia, Narcolepsy OMIM:604121
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype... OMIM:248370
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Fasting h... ORPHA:264580
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti... OMIM:619580
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... OMIM:610042
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Diabetes mellitus ORPHA:69663
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... OMIM:607485
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... ORPHA:168491
Aceruloplasminemia
Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, D... OMIM:604290
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorde... OMIM:620242
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal tempe... ORPHA:449291
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor tics, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ataxia OMIM:619725
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Gaisböck Syndrome
Hypertriglyceridemia, Diabetes mellitus, Hyperproteinemia, Increased circulating renin level, Hyp... ORPHA:90041
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Memory impairment, Ataxia, Narcolepsy ORPHA:314404
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Ataxia, Decreased circulating copper concentra... ORPHA:48818
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... ORPHA:2298
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Narcolepsy, Mental deteriorati... ORPHA:646
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuric... ORPHA:79259
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Rett Syndrome
Increased serum pyruvate, Inability to walk, Hyperammonemia, Gait disturbance, Agitation, Difficu... ORPHA:778
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:488618
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Bardet-Biedl Syndrome 20
Hypercholesterolemia OMIM:619471
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Narcolepsy 3
Narcolepsy OMIM:609039
Narcolepsy 1
Narcolepsy OMIM:161400
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Aggressive behavior, Narcolepsy, Hyperlipidemia, Hyperkalemia, Self-injurious behav... ORPHA:293987
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Type I... OMIM:606721
Narcolepsy 7
Narcolepsy OMIM:614250
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia ORPHA:534
Steinert Myotonic Dystrophy
Hypercholesterolemia, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:273
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Dysdiadochokinesis, Gait disturbance, Increased to... ORPHA:309854
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia OMIM:118450
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... OMIM:309000
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:465508
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
African Trypanosomiasis
Akinesia, Aggressive behavior, Narcolepsy, Choreoathetosis, Gait disturbance, Difficulty walking,... ORPHA:3385
Trichohepatoenteric Syndrome 1
Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis, Hypermethioninemia, Cogni... OMIM:222470
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064

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 Btbd9

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 Btbd9.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
BTBD9 and dopaminergic dysfunction in the pathogenesis of restless legs syndrome. Brain structure & function (May 2020) Btbd9tm1c(EUCOMM)Wtsi PMC7429108
The Role of BTBD9 in the Cerebellum, Sleep-like Behaviors and the Restless Legs Syndrome. Neuroscience (May 2020) Btbd9tm1c(EUCOMM)Wtsi Btbd9tm1a(EUCOMM)Wtsi 32446853
The role of BTBD9 in the cerebral cortex and the pathogenesis of restless legs syndrome. Experimental neurology (November 2019) Btbd9tm1c(EUCOMM)Wtsi Btbd9tm1a(EUCOMM)Wtsi 31715135
The Role of BTBD9 in Striatum and Restless Legs Syndrome. eNeuro (September 2019) Btbd9tm1c(EUCOMM)Wtsi Btbd9tm1a(EUCOMM)Wtsi PMC6787346
Meis1: effects on motor phenotypes and the sensorimotor system in mice. Disease models & mechanisms (June 2017) Btbd9tm1b(EUCOMM)Wtsi PMC5560065

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Btbd9tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Btbd9tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Btbd9tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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