Gene Summary

Name:
transmembrane protein 106B
Synonyms:
6430519M21Rik,  5830455K21Rik,  2310036D22Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal epididymis morphology Tmem106btm2b(KOMP)Wtsi HOM Early adult 0.00
enlarged epididymis Tmem106btm2b(KOMP)Wtsi HOM Early adult 0.00
increased bone mineral content Tmem106btm2b(KOMP)Wtsi HOM   Early adult 6.94×10-05
decreased body length Tmem106btm2b(KOMP)Wtsi HOM   Early adult 1.77×10-05
decreased brain weight Tmem106btm2b(KOMP)Wtsi HOM   Early adult 4.65×10-07
improved glucose tolerance Tmem106btm2b(KOMP)Wtsi HOM Early adult 1.57×10-05
increased circulating alkaline phosphatase level Tmem106btm2b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Duodenum  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Sublingual gland  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 50% (1 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote Not available
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote Not available
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote Not available
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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood 0.0%
bone marrow 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
chest bone Unavailable
colon 9.6% (12 of 125)
diaphragm 0.0%
duodenum 1.63% (2 of 123)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.35% (2 of 566)
hindlimb 0.0%
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
ileum 9.68% (12 of 124)
jejunum 4.84% (6 of 124)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
stomach pyloric region 0.0%
striatum 0.53% (3 of 567)
sublingual gland 0.0%
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
tongue 3.25% (4 of 123)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 4.03% (15 of 372)
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

136 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Human diseases caused by Tmem106b 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.

The table below shows human diseases associated to Tmem106b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Semantic Dementia
Brain atrophy ORPHA:100069
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Temporal cortical atrophy, Abnormal lower motor neuron morpholog... ORPHA:100070
Leukodystrophy, Hypomyelinating, 16
Dysmetria, Gait ataxia OMIM:617964
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy ORPHA:275864

The table below shows human diseases predicted to be associated to Tmem106b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Senile Plaque Formation
Senile plaques OMIM:269800
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired proprioception, Impaired temperature sensatio... DECIPHER:29
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Facial palsy, Abnormal lower motor neuron morphology, Distal amyotrophy, Lo... OMIM:607641
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Axonal degeneration, ... OMIM:602433
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Impaired proprioception, Progressive cerebellar ataxia, Abnormal lower motor neuron morphology, T... ORPHA:95434
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Abnormal upper motor neuron morphology ORPHA:247604
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Skeletal muscle atrophy, Ptosis, Facial diplegia, Downsla... OMIM:611890
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Spasticity of facial muscles, Abnormal lower motor neuron morpholo... OMIM:205100
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Distal amyotrophy OMIM:602099
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Ptosis, Global brain atrophy, Generalized amyot... ORPHA:275872
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scapuloperoneal amyotrophy, Joint contracture of the hand, Abnormal lower motor neuron morphology... OMIM:611067
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, C... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, C... OMIM:616437
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Spinocerebellar atrophy, Ataxia, Distal amyotrophy, Gait ataxia, Abnormal upp... OMIM:215470
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Cerebral cortical atrophy, Abnormal upper motor neuron morphology OMIM:606353
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Osteoporosis, Hypercholesterolem... OMIM:610947
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Diaminopentanuria
Neurodegeneration OMIM:222350
Semantic Dementia
Brain atrophy ORPHA:100069
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormal motor neuron morphology, Azoospermia OMIM:613724
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, ... OMIM:105550
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Shoulder girdle muscle weakne... OMIM:606070
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Limb muscle weakness, Amyotroph... OMIM:613954
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ataxia, Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Ptosis OMIM:615911
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Cranial nerve compression, Amyotrophic lateral sclerosis, Gener... ORPHA:52430
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Temporal cortical atrophy, Abnormal lower motor neuron morpholog... ORPHA:100070
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Distal sensory impairment, Paresthesia, Abnormal upper motor neuron morp... OMIM:263570
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Cerebellar atrophy, Dysmetria, Ataxia, Abnormal upper motor neuron morphology, Cer... OMIM:607694
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy OMIM:610951
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Abnormal anterior horn cell morphology, Abnormal mus... ORPHA:1145
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Leukoencephalopathy, Progressive, With Ovarian Failure
Neurodegeneration, Cerebellar atrophy OMIM:615889
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies OMIM:615426
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Pelvic girdle muscle weakness, Myopathy, Temporal cortical atrophy, Limb muscle weakness, Amyotro... OMIM:167320
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Skeletal muscle ... OMIM:105400
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Osteopenia, Hyperinsulinemia, Hypoplasia of the ... OMIM:615363
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Abnormal upper motor neuron morphology, Cerebral atrophy OMIM:221770
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Primary Lateral Sclerosis
Cervical spinal cord atrophy, Abnormal upper motor neuron morphology, Atrophy of the spinal cord ORPHA:35689
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Skeletal muscle atrophy, A... OMIM:253310
Spastic Paralysis, Infantile-Onset Ascending
Achilles tendon contracture, Abnormal lower motor neuron morphology OMIM:607225
Machado-Joseph Disease Type 3
Cerebellar atrophy, Skeletal muscle atrophy, Degeneration of the striatum, Progressive gait ataxi... ORPHA:276244
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology ORPHA:2590
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Abnormal lower motor neuron morphol... OMIM:614298
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Neurodegeneration With Brain Iron Accumulation 5
Neurodegeneration, Cerebellar atrophy, Cerebral atrophy OMIM:300894
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Generalized amyotrophy, Lower limb muscle weakness, Abnormal upper ... OMIM:601162
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, A... OMIM:615157
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Neurodegeneration, Cerebellar atrophy, Gait ataxia, Congenital diaphragmatic hernia ORPHA:438134
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Chorea, Neurodegeneration, Ataxia, Cerebral atrophy, Cerebral cortical atrophy OMIM:617672
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:608627
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brainstem, Neuro... OMIM:612319
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis OMIM:300857
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Distal upper limb a... ORPHA:600
Spastic Paraplegia 79, Autosomal Recessive
Optic atrophy, Cerebellar atrophy, Dysmetria, Neurodegeneration, Ataxia, Flexion contracture, Cer... OMIM:615491
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Maturity-onset diabetes of the young, Glucose intolerance, Imp... OMIM:137920
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy, Skeletal muscle atrophy ORPHA:803
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619133
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, De... OMIM:256600
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Myopathy, Cerebellar atrophy, Skeletal muscle atrophy, Ptosis, Neurodegeneration, ... OMIM:616239
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Choreoathetosis, Eyelid fasci... ORPHA:79139
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Krabbe Disease
Diffuse cerebral atrophy, Optic atrophy, Decreased nerve conduction velocity, Neurodegeneration OMIM:245200
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Syringomyelia, EMG: myopathic abnormalities, Proximal sp... ORPHA:1320
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the upper limbs, Skeletal muscle atrophy, Chorea, Contractures of t... ORPHA:300605
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Neurodegeneration With Brain Iron Accumulation 3
Choreoathetosis, Chorea, Neurodegeneration, Ataxia, Hypomimic face, Blepharospasm OMIM:606159
Adrenoleukodystrophy
Impaired vibration sensation at ankles, Neurodegeneration, Alopecia, Truncal ataxia, Limb ataxia,... OMIM:300100
Ane Syndrome
Multiple joint contractures, Generalized amyotrophy, Alopecia, Motor neuron atrophy ORPHA:157954
Hsd10 Disease, Infantile Type
Optic atrophy, Choreoathetosis, Neurodegeneration, Cerebral atrophy, Frontotemporal cerebral atro... ORPHA:391428
Combined Oxidative Phosphorylation Defect Type 29
Global brain atrophy, Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration ORPHA:478029
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration, Conjunctival telangiectasia, Ataxia, Flexion contracture OMIM:615919
Mucopolysaccharidosis, Type Ii
Hypertrichosis, Cervical cord compression, Ptosis, Macroglossia, Neurodegeneration, Papilledema, ... OMIM:309900
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Cerebellar atrophy, Dysmetria, Chorea, Neurodegeneration, Dysdiadochokinesis, Cere... OMIM:610217
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Ptosis, Orthostatic hypotension, Neurodegeneration, Ataxia, Abnormal aut... OMIM:146500
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Chorea, Ataxia, Neurodegeneration, Cerebral atrophy OMIM:618321
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Ataxia, Neurodegeneration OMIM:618476
Cerebral Visual Impairment
Central nervous system degeneration, Optic atrophy, Optic disc pallor, Neurodegeneration, Optic n... ORPHA:447788
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy ORPHA:309246
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Neurodegeneration, Acute rhabdomyolysis, Rhabdomyolysis, Ataxia, Cerebral atrophy,... OMIM:616878
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Gm2-Gangliosidosis, Ab Variant
Chorea, Neurodegeneration, Cerebral atrophy OMIM:272750
Floating-Harbor Syndrome
Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism OMIM:136140
Chediak-Higashi Syndrome
Silver-gray hair, Neurodegeneration, Decreased nerve conduction velocity, Ataxia, Foot dorsiflexo... OMIM:214500
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Cerebral degeneration, Decreased muscle mass, Myopathy, Choreoathetosis, Eyelid ap... OMIM:234200
Mucopolysaccharidosis, Type Vii
Hirsutism, Macroglossia, Neurodegeneration, Coarse hair, Thick eyebrow, Flexion contracture OMIM:253220
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Hurler Syndrome
Neurodegeneration, Hirsutism, Flexion contracture OMIM:607014
Floating-Harbor Syndrome
Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism, Pr... ORPHA:2044
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Nijmegen Breakage Syndrome
Neurodegeneration, Upslanted palpebral fissure, Rhabdomyosarcoma OMIM:251260
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad eyebrow, Torticollis, Neurodegeneration, Upslanted palpebral fissure, Long palpebral fissur... OMIM:619475
Primrose Syndrome
Dystrophic fingernails, Hip contracture, Ptosis, Neurodegeneration, Downslanted palpebral fissure... OMIM:259050
Leukodystrophy, Hypomyelinating, 16
Dysmetria, Gait ataxia OMIM:617964
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy ORPHA:275864

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 Tmem106b

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 Tmem106b.

There are 8 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Spreading of Alzheimer tau seeds is enhanced by aging and template matching with limited impact of amyloid-β. The Journal of biological chemistry (September 2021) Tmem106btm2a(KOMP)Wtsi PMC8477193
Fronto-temporal dementia risk gene TMEM106B has opposing effects in different lysosomal storage disorders. Brain communications (November 2020) Tmem106btm2a(KOMP)Wtsi PMC7990118
Loss of TMEM106B potentiates lysosomal and FTLD-like pathology in progranulin-deficient mice. EMBO reports (September 2020) Tmem106btm2a(KOMP)Wtsi PMC7534633
Loss of Tmem106b exacerbates FTLD pathologies and causes motor deficits in progranulin-deficient mice. EMBO reports (August 2020) Tmem106btm2a(KOMP)Wtsi 32761777
The FTLD Risk Factor TMEM106B Regulates the Transport of Lysosomes at the Axon Initial Segment of Motoneurons. Cell reports (March 2020) Tmem106btm2a(KOMP)Wtsi Tmem106btm2b(KOMP)Wtsi 32160553
Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency. Molecular neurodegeneration (June 2018) Tmem106btm2a(KOMP)Wtsi PMC6013889
Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity. Acta neuropathologica communications (May 2018) Tmem106btm2a(KOMP)Wtsi PMC5984311
Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice. Neuron (July 2017) Tmem106btm2a(KOMP)Wtsi PMC5558861

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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Tmem106bem1(IMPC)Bay Exon Deletion Mice
Tmem106btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Tmem106btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tmem106btm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmem106btm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter