Gene Summary

Name:
transmembrane protein 30B
Synonyms:
9130011B11Rik

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
enlarged heart Tmem30btm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal urinary bladder morphology Tmem30btm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal eye morphology Tmem30btm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal coat/hair pigmentation Tmem30btm1b(EUCOMM)Wtsi HOM Early adult 3.65×10-06
abnormal auditory brainstem response Tmem30btm1b(EUCOMM)Wtsi HOM   Early adult 2.22×10-06

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

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 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)
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)
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)
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)
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%
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

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

4 Images

Human diseases caused by Tmem30b 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 Tmem30b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Tietz Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Ethanolaminosis
Cardiomegaly OMIM:227150
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Waardenburg Syndrome, Type 2F
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... OMIM:619947
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment, White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Abcd Syndrome
Albinism, White eyebrow, White eyelashes, Abnormal auditory evoked potentials, Total intestinal a... OMIM:600501
Waardenburg Syndrome, Type 4B
Sensorineural hearing impairment, Hypopigmented skin patches, Blue irides, White eyebrow, White e... OMIM:613265
Ermine Phenotype
Sensorineural hearing impairment, Spotty hyperpigmentation, Albinism, Vitiligo, White eyebrow, Wh... OMIM:227010
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Hepatosplenomegaly, Sil... OMIM:607624
White Forelock With Malformations
Poliosis, White forelock, Atrial septal defect OMIM:277740
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Waardenburg Syndrome Type 2
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, Hypopigm... ORPHA:895
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Waardenburg Syndrome, Type 2A
Sensorineural hearing impairment, Numerous pigmented freckles, Partial albinism, Albinism, White ... OMIM:193510
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... ORPHA:320401
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Piebald Trait-Neurologic Defects Syndrome
Sensorineural hearing impairment, Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypop... ORPHA:2885
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Waardenburg Syndrome, Type 4A
Sensorineural hearing impairment, Aganglionic megacolon, Blue irides, White eyebrow, White eyelas... OMIM:277580
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, White forelock, Patchy hypo- and hyperpigmentation, Nume... OMIM:601706
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly, Macrotia OMIM:613576
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of retinal pigmentation, Hypo... ORPHA:897
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Generalized hyperpigmentat... ORPHA:33445
Mucopolysaccharidosis, Type Iiib
Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Heparan sulfate excretion in urine, Synophrys... OMIM:252920
Attrv30M Amyloidosis
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Cardiomyopa... ORPHA:85447
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality OMIM:617519
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair, Abnormal heart morphology ORPHA:1067
Piebaldism
Heterochromia iridis, Hypopigmented skin patches, Hypopigmentation of hair, White eyebrow, White ... ORPHA:2884
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Combined Oxidative Phosphorylation Deficiency 33
Sensorineural hearing impairment, Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy,... OMIM:617713
Piebald Trait With Neurologic Defects
White forelock, Hearing impairment, Absent pigmentation of the ventral chest OMIM:172850
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601455
Waardenburg Syndrome Type 1
Congenital sensorineural hearing impairment, Premature graying of hair, Thick eyebrow, Hypopigmen... ORPHA:894
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Fair hair, Hepatomegaly, Splenomegaly, Hypopigmentation of the skin, Cardiome... OMIM:269920
Vogt-Koyanagi-Harada Disease
Sensorineural hearing impairment, Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnor... ORPHA:3437
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Piebaldism, Aga... OMIM:172800
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... ORPHA:1215
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... OMIM:601596
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrotia OMIM:300886
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Congenital Toxoplasmosis
Hearing impairment, Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly ORPHA:858
Mogs-Cdg
Sensorineural hearing impairment, Absent brainstem auditory responses, Hirsutism, Hepatomegaly, A... ORPHA:79330
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality ORPHA:411515
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, EEG with abnormally slow frequencies, Multifocal epileptiform discharge... ORPHA:70472
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Long eyelashes, Hepatomegaly, Synophrys, Cardiomegaly OMIM:619064
Neuraminidase Deficiency
Sensorineural hearing impairment, Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oli... OMIM:256550
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Abnormal autonomic nervous system physiology, Restric... ORPHA:85451
Neurooculocardiogenitourinary Syndrome
Sensorineural hearing impairment, Atrial septal defect, Ventricular septal defect, Patent foramen... OMIM:618652
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly, Hypopigmentation of t... OMIM:618541
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Griscelli Syndrome Type 2
Hepatomegaly, Splenomegaly, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation, Pr... ORPHA:79477
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Congenital, generalized hypertri... OMIM:239850
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177910
Waardenburg Syndrome
Conductive hearing impairment, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmen... ORPHA:3440
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Abnormal helix morphology, Absent hair, Congenital alopecia totalis, A... ORPHA:158687
Alpha-N-Acetylgalactosaminidase Deficiency
Hearing impairment, Oligosacchariduria, Cardiomegaly ORPHA:3137
Ermine Phenotype
Sensorineural hearing impairment, Irregular hyperpigmentation, Ocular albinism, Hypopigmentation ... ORPHA:999
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Hemochromatosis, Type 1
Hepatomegaly, Alopecia, Splenomegaly, Hyperpigmentation of the skin, Cardiomyopathy, Cardiomegaly OMIM:235200
Amyloidosis, Hereditary, Transthyretin-Related
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... OMIM:105210
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Synophrys, Abnormal auditory evoked potentials OMIM:619260
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... OMIM:609136
Naxos Disease
Woolly hair, Right ventricular cardiomyopathy, Sparse eyebrow, Abnormal morphology of right ventr... OMIM:601214
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Squalene Synthase Deficiency
Bicuspid aortic valve, Abnormality of hair pigmentation, Optic nerve hypoplasia, Hypospadias, Low... OMIM:618156
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Pigmentary retinopathy, Cardiomegaly, Pericardial constriction OMIM:253250
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:352731
Refsum Disease, Classic
Sensorineural hearing impairment, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology OMIM:266500
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... OMIM:601375
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair, Cardiac myxoma OMIM:160980
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Leigh Syndrome With Nephrotic Syndrome
EEG with focal spikes, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Renal cyst,... ORPHA:255249
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
EEG abnormality, EEG with focal epileptiform discharges, Hypopigmentation of the skin, Hypopigmen... ORPHA:98795
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Red hair, Fair hair, Blue irides OMIM:614613
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Waardenburg Syndrome, Type 4C
Sensorineural hearing impairment, Aganglionic megacolon, Blue irides, White eyebrow, White eyelas... OMIM:613266
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Cardiomegaly OMIM:618838
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Hypertrichosis, Atrial septal defect, Aortic valve stenosis, Low anterior ... ORPHA:363705
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... OMIM:611584
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... ORPHA:206443
Cantú Syndrome
Generalized hirsutism, Low anterior hairline, Thick eyebrow, Curly eyelashes, Long eyelashes, Abn... ORPHA:1517
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Large fleshy ears, Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Low-set ea... OMIM:616897
Muenke Syndrome
Sensorineural hearing impairment, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented ... ORPHA:53271
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Ataxia-Telangiectasia
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair ORPHA:100
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Optic atrophy, Hearing impairment, Hypertro... ORPHA:391428
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hepatomegaly, Hypermelanotic macule, Pigmentary retinopathy,... ORPHA:90321
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials, Urinary incontinence ORPHA:206448
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Hearing impairment, Abnormality of the nail, Cardiomegaly ORPHA:349
Cockayne Syndrome B
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... OMIM:133540
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Sensorineural hearing impairment, Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyp... ORPHA:3214
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Overfolded helix, Mitral valve prolapse, Macrotia, Abnormal atrioventricul... ORPHA:324410
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Brittle Cornea Syndrome 1
Mitral valve prolapse, Hearing impairment, Red hair OMIM:229200
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Cardiomegaly OMIM:255120
Cockayne Syndrome A
Sensorineural hearing impairment, Abnormal pinna morphology, Hepatomegaly, Decreased nerve conduc... OMIM:216400
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Beck-Fahrner Syndrome
Ventricular septal defect, Protruding ear, EEG abnormality, Cardiomegaly OMIM:618798
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... ORPHA:99027
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Infantile Krabbe Disease
Decreased nerve conduction velocity, Optic atrophy, Hearing impairment, Hypopigmented skin patche... ORPHA:206436
Histiocytosis-Lymphadenopathy Plus Syndrome
Sensorineural hearing impairment, Hepatomegaly, Atrial septal defect, Splenomegaly, Pulmonic sten... OMIM:602782
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Cardiomegaly ORPHA:42
Syndromic Diarrhea
Bicuspid aortic valve, Hepatomegaly, Atrial septal defect, Woolly hair, Splenomegaly, Generalized... ORPHA:84064
Vici Syndrome
Sensorineural hearing impairment, Ocular albinism, Hypopigmentation of the skin, Left ventricular... OMIM:242840
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Coarse hair, Heparan sulfate excretion in urine, ... ORPHA:581
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... ORPHA:101085
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horsesho... OMIM:306955
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoplastic toenails, Hepatomegaly, Long-chain dicarboxylic aciduria, Overfolded helix, Ureteral ... OMIM:608836
Chediak-Higashi Syndrome
Ocular albinism, Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Hypopigmentatio... OMIM:214500
Trisomy 10P
EEG with focal spikes, Multiple renal cysts, Low voltage EEG, EEG with burst suppression, Abnorma... ORPHA:171929
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic cardiomyopathy,... OMIM:201475
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Cardiomegaly, Microtia OMIM:613320
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Protruding ear, Abnormality of hair texture, Bicuspid aortic ... ORPHA:96169
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality ORPHA:411511
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Symptomatic Form Of Hemochromatosis Type 1
Generalized bronze hyperpigmentation, Hepatomegaly, Splenomegaly, Hyperpigmentation of the skin, ... ORPHA:465508
Fucosidosis
Glycopeptiduria, Thick eyebrow, Hepatomegaly, Oligosacchariduria, Splenomegaly, Hearing impairmen... OMIM:230000
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
EEG abnormality, Hypopigmentation of the skin, Hypopigmentation of hair, EEG with abnormally slow... ORPHA:98794
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Sensorineural hearing impairment, Abnormal eyebrow morphology, Hepatomegaly, Hypopigmented skin p... ORPHA:163746
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Pseudo-Torch Syndrome 3
Acute kidney injury, Proteinuria, Cardiomegaly OMIM:618886
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... ORPHA:228308
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, 3-Methylglutaconic aciduria, Cardiomyopathy, Cardiomegaly OMIM:619259
Hypohidrotic Ectodermal Dysplasia
Nephrotic syndrome, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of th... ORPHA:238468
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Highly arched eyebrow, EEG with burst suppression, Hearing impairment, Posteriorly ... OMIM:618143
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence OMIM:268800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hearing impairment, Hypertrophic ... ORPHA:308552
Mend Syndrome
Aortic valve stenosis, Abnormal auditory evoked potentials, Spotty hypopigmentation, Low-set ears... ORPHA:401973
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hirsutism, Synophrys, Macrotia, Cardiomegaly, Low posterior hairline ORPHA:2463
Cerebrotendinous Xanthomatosis
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Abnormal... ORPHA:909
Brittle Cornea Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of hair pigmentation... ORPHA:90354
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Brachial plexus neuropathy, Right ventricular hypertrophy ORPHA:268
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Prominent antitragus, Bicuspid aortic valve, Atrial septal defect, Thick eyebrow, Microtia, Left ... OMIM:245600
Sickle Cell Anemia
Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Cardiomegaly OMIM:603903
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of... ORPHA:3322
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Oculocerebral Hypopigmentation Syndrome, Cross Type
Sensorineural hearing impairment, EEG abnormality, Ocular albinism, Hypopigmentation of hair, Ure... ORPHA:2719
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Cardiomegaly OMIM:617022
Craniofaciofrontodigital Syndrome
Low-set ears, Cardiomegaly, Abnormal heart morphology OMIM:114620
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... ORPHA:57777
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Microtia, Hepatosplenomegaly, Low-set ears, Cardiomegaly OMIM:608013
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... ORPHA:79430
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Degcags Syndrome
Hypertrichosis, Hepatomegaly, Abnormal renal medulla morphology, Ventricular septal defect, Long ... OMIM:619488
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Sparse hair, Sparse eyebrow, Splenomegaly, Brittle hair, Hypopigmentation of the sk... OMIM:252500
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Dilated cardiomyopathy, Hydronephrosis, Cardiomegaly OMIM:614921
Glycogen Storage Disease Ii
Hepatomegaly, Splenomegaly, Hearing impairment, Cardiomegaly, Urinary incontinence OMIM:232300
Chédiak-Higashi Syndrome
Spotty hyperpigmentation, Abnormality of retinal pigmentation, Decreased nerve conduction velocit... ORPHA:167
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis OMIM:208000
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Posterior helix pit, Hepatomegaly, Renal cortical cysts, Pancreatic hyperplasia,... OMIM:130650
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Hypertrichosis, Low-set, posteriorly rotated ears, Optic atro... ORPHA:97297
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Hearing impairment, Cardiomegaly ORPHA:79280
Ogden Syndrome
Protruding ear, Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Spars... OMIM:300855
Autosomal Recessive Faciodigitogenital Syndrome
Overfolded helix, Coarse hair, Dry hair, Hypopigmentation of hair, Widow's peak, Posteriorly rota... ORPHA:1974
Cystinosis, Nephropathic
Nephrolithiasis, Medullary nephrocalcinosis, Hepatomegaly, Aminoaciduria, Splenomegaly, Retinal p... OMIM:219800
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Posterior helix pit, Otosclerosis, Hepatomegaly, Splenomegaly, Congenital megaur... ORPHA:116
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Atrial septal defect, Micropenis ORPHA:398069
Prader-Willi Syndrome
Generalized hypopigmentation, Hypopigmentation of the skin, Micropenis, Frontal upsweep of hair, ... OMIM:176270
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Abnormal earlobe morphology, Hypoplastic fingernail, Car... ORPHA:96191
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Micropenis ORPHA:398079
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Yunis-Varon Syndrome
Sparse scalp hair, Abnormal pinna morphology, Atrial septal defect, Sparse eyebrow, Sparse eyelas... ORPHA:3472
Prader-Willi Syndrome Due To Translocation
Stellate iris, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hyp... ORPHA:177907
Histiocytoid Cardiomyopathy
Hepatomegaly, Optic atrophy, Ventricular septal defect, Renal cyst, Cardiomegaly ORPHA:137675
Smith-Lemli-Opitz Syndrome
Sensorineural hearing impairment, Atrial septal defect, Hypoplasia of penis, Atrioventricular can... ORPHA:818
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertrichosis, Hepatomegaly, Splenomegaly, Sparse axillary hair, Hyperpigmentation of the skin, ... OMIM:256040
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hearing impairment, Hypertrophic ... ORPHA:365
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Tetralogy of Fallot, Vent... ORPHA:3384
Williams Syndrome
Abnormal cardiac septum morphology, Blue irides, Ventricular septal defect, Proteinuria, Abnormal... ORPHA:904
Menkes Disease
Bladder diverticulum, Hypopigmentation of hair, Woolly hair, Sparse hair ORPHA:565
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... ORPHA:1677
Liver Disease, Severe Congenital
Hepatomegaly, Atrial septal defect, Aminoaciduria, Splenomegaly, Hypospadias, Dry hair, Cholestea... OMIM:619991
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98754
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hepatomegaly, Cardiomegaly ORPHA:14
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177901
Aicardi-Goutières Syndrome
Micropenis, Hepatosplenomegaly, Low-set ears, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:51
Prader-Willi-Like Syndrome
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:398073
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:739
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... ORPHA:99125
Generalized Arterial Calcification Of Infancy
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Medullary neph... ORPHA:51608
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Red hair, Fair hair, Blue irides ORPHA:280651
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... ORPHA:75565
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250

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 Tmem30b

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 Tmem30b.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Tmem30btm1b(EUCOMM)Wtsi PMC5638796

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MGI Allele Allele Type Produced
Tmem30btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Tmem30btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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