Gene: Tmem30b MGI:2442082

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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
abnormal coat/hair pigmentation Tmem30btm1b(EUCOMM)Wtsi HOM Early adult 3.54×10-06
abnormal auditory brainstem response Tmem30btm1b(EUCOMM)Wtsi HOM   Early adult 2.84×10-06
abnormal urinary bladder morphology Tmem30btm1b(EUCOMM)Wtsi HOM Early adult 0.00
enlarged heart Tmem30btm1b(EUCOMM)Wtsi HOM Early adult 0.00
abnormal eye morphology Tmem30btm1b(EUCOMM)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 66.67% (2 of 3)
Ileum  Section images heterozygote 33.33% (1 of 3)
Kidney  Wholemount images  Section images heterozygote 100% (3 of 3)
Liver  Wholemount images heterozygote 33.33% (1 of 3)
Parathyroid gland  Section images heterozygote 33.33% (1 of 3)
Penis  Section images heterozygote 33.33% (1 of 3)
Pituitary gland  Wholemount images heterozygote 33.33% (1 of 3)
Submandibular gland  Section images heterozygote 33.33% (1 of 3)
Testis  Section images heterozygote 33.33% (1 of 3)
Thyroid gland  Wholemount images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 66.67% (2 of 3)
Adrenal gland N/A heterozygote 0.0% (0 of 3)
Aorta N/A heterozygote 0.0% (0 of 3)
Blood N/A heterozygote 0.0% (0 of 3)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brain N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 3)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 33.33% (1 of 3)
Cerebellum N/A heterozygote 0.0% (0 of 3)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 33.33% (1 of 3)
Diaphragm N/A heterozygote 0.0% (0 of 3)
Duodenum N/A heterozygote 33.33% (1 of 3)
Esophagus N/A heterozygote 0.0% (0 of 3)
Eye N/A heterozygote 0.0% (0 of 3)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 3)
Harderian gland N/A heterozygote 0.0% (0 of 3)
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 3)
Large intestine N/A heterozygote Not available
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 3)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 3)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 3)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 3)
Midbrain N/A heterozygote 0.0% (0 of 3)
Olfactory lobe N/A heterozygote 0.0% (0 of 3)
Ovary N/A heterozygote 0.0% (0 of 3)
Oviduct N/A heterozygote 0.0% (0 of 3)
Pancreas N/A heterozygote 0.0% (0 of 3)
Parotid gland N/A heterozygote 0.0% (0 of 3)
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 3)
Quadriceps N/A heterozygote 0.0% (0 of 3)
Sciatic nerve N/A heterozygote 0.0% (0 of 3)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 3)
Small intestine N/A heterozygote Not available
Spinal cord N/A heterozygote 0.0% (0 of 3)
Spleen N/A heterozygote 0.0% (0 of 3)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 33.33% (1 of 3)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 3)
Thymus N/A heterozygote 0.0% (0 of 3)
Tongue N/A heterozygote 0.0% (0 of 3)
Trachea N/A heterozygote 0.0% (0 of 3)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 3)
Urinary bladder N/A heterozygote 0.0% (0 of 3)
Uterus N/A heterozygote 0.0% (0 of 3)
Vagina N/A heterozygote 0.0% (0 of 3)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 3)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

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

Associated Images

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

Adult LacZ

LacZ Images Section

17 Images

Adult LacZ

LacZ Images Wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 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
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Hy... ORPHA:42665
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Abcd Syndrome
Albinism, Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Ethanolaminosis
Cardiomegaly OMIM:227150
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Waardenburg Syndrome, Type 2B
White forelock, Sensorineural hearing impairment, Heterochromia iridis, Premature graying of hair OMIM:600193
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, Sensorineu... OMIM:613265
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of melanosomes in mela... OMIM:607624
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... OMIM:616648
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, Sensorineural hearing impairment, White eyelashes,... OMIM:227010
White Forelock With Malformations
Atrial septal defect, White forelock, Poliosis OMIM:277740
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, Aganglionic megacolon,... ORPHA:895
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Waardenburg Syndrome, Type 2A
Albinism, White eyebrow, Heterochromia iridis, Premature graying of hair, Synophrys, White eyelas... OMIM:193510
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Abnormal eyebrow morphology, Heterochromia... ORPHA:2885
Autosomal Recessive Spastic Paraplegia Type 44
Urinary bladder sphincter dysfunction, Abnormal motor evoked potentials, Abnormal auditory evoked... ORPHA:320401
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair ORPHA:1355
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, Sensorineu... OMIM:277580
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Cardiomegaly, Macrotia OMIM:613576
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Patchy hypo- and hyperpigmentation, Numerous pigmented f... OMIM:601706
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, Optic atrophy... ORPHA:33445
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal eyebrow morphology, Hypopigmentation of hair, White... ORPHA:897
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hirsutism, Coarse hair, Synophrys, Hepatomegaly, Hearing impairmen... OMIM:252920
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Attrv30M Amyloidosis
Abnormal renal physiology, Abnormal autonomic nervous system physiology, Nephropathy, Cardiomegal... ORPHA:85447
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia, Abnormal heart morphology ORPHA:1067
Piebaldism
Hypopigmentation of hair, Heterochromia iridis, White eyebrow, Aganglionic megacolon, Synophrys, ... ORPHA:2884
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, Hearing impairment, White forelock OMIM:172850
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricular hypertrophy, Nephr... OMIM:617713
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Waardenburg Syndrome Type 1
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White eyebrow, Abnorma... ORPHA:894
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Infantile Sialic Acid Storage Disease
Fair hair, Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Splenomegaly, Hypopigmentation of the ... OMIM:269920
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Vogt-Koyanagi-Harada Disease
Vitiligo, Abnormal eyebrow morphology, Premature graying of hair, Abnormal eyelash morphology, Po... ORPHA:3437
Piebald Trait
Heterochromia iridis, Aganglionic megacolon, Partial albinism, White forelock, Absent pigmentatio... OMIM:172800
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Congenital Toxoplasmosis
Hepatomegaly, Hearing impairment, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:858
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality, Hypopigmentation of the skin ORPHA:411515
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, W... ORPHA:79435
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macrotia OMIM:300886
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Heterochromia iridis, White eyebrow, Abnormal autonomic ner... OMIM:609136
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Long eyelashes, Cardiomegaly, Synophrys OMIM:619064
Oculocutaneous Albinism
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation of hair, White eyeb... ORPHA:55
Neuraminidase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Cardiomegaly, Urinary excretion of sialylated oli... OMIM:256550
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Optic disc pallor OMIM:619170
Griscelli Syndrome Type 2
Iris hypopigmentation, Hypopigmentation of hair, Premature graying of hair, Hepatomegaly, Partial... ORPHA:79477
Cantu Syndrome
Pericardial effusion, Congenital, generalized hypertrichosis, Long eyelashes, Congenital hypertro... OMIM:239850
Alpha-N-Acetylgalactosaminidase Deficiency
Hearing impairment, Oligosacchariduria, Cardiomegaly ORPHA:3137
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Hemochromatosis, Type 1
Hepatomegaly, Hyperpigmentation of the skin, Cardiomegaly, Alopecia, Splenomegaly, Cardiomyopathy OMIM:235200
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... OMIM:105210
Ermine Phenotype
Iris hypopigmentation, Hypopigmentation of hair, Irregular hyperpigmentation, Ocular albinism, Se... ORPHA:999
Carney Complex, Type 1
Freckling, Red hair, Hirsutism, Cardiac myxoma, Profuse pigmented skin lesions, Multiple lentigines OMIM:160980
Naxos Disease
Onycholysis, Curly hair, Woolly hair, Abnormal morphology of right ventricular trabeculae, Sparse... OMIM:601214
Lethal Acantholytic Erosive Disorder
Absent toenail, Absent eyelashes, Absent fingernail, Absent eyebrow, Abnormality of the helix, Ca... ORPHA:158687
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... ORPHA:79432
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Sensorineural hearing impairment, Cardiomegaly, ... OMIM:618652
Mulibrey Nanism
Myocardial fibrosis, Pigmentary retinopathy, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Waardenburg Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, Heteroch... ORPHA:3440
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Macrotia, Low-set, posteriorly rotated ears, Optic nerve hypopl... OMIM:618156
Refsum Disease, Classic
Abnormal renal physiology, Sensorineural hearing impairment, Cardiomegaly, Cardiomyopathy OMIM:266500
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Short eyelashes, Sparse axillary hair, Absent eyebrow, Fair hair, Sparse scalp hair, Sparse pubic... OMIM:601375
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Abnormal eyebrow morphology, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Gene... ORPHA:352731
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... ORPHA:79434
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor, Synophrys OMIM:619260
Waardenburg Syndrome, Type 4C
Heterochromia iridis, Premature graying of hair, White eyebrow, Aganglionic megacolon, Sensorineu... OMIM:613266
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Cardiomegaly OMIM:618838
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Red hair, Blue irides, Fair hair OMIM:614613
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, EEG with focal epileptiform discharges, EEG abno... ORPHA:98795
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
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
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Cockayne Syndrome A
Abnormality of skin pigmentation, Dry hair, Sparse hair, Pigmentary retinopathy, Retinal pigment ... OMIM:216400
Waardenburg Syndrome, Type 2E
Hypoplasia of the semicircular canal, Heterochromia iridis, Premature graying of hair, White eyeb... OMIM:611584
Hypertrichotic Osteochondrodysplasia, Cantu Type
Generalized hirsutism, Low anterior hairline, Abnormal heart valve morphology, Long eyelashes, Th... ORPHA:1517
Muenke Syndrome
Hypopigmentation of hair, Sensorineural hearing impairment, Hypermelanotic macule, Hypopigmented ... ORPHA:53271
Cockayne Syndrome B
Abnormality of skin pigmentation, Dry hair, Sparse hair, Pigmentary retinopathy, Abnormal hair mo... OMIM:133540
Hsd10 Disease, Infantile Type
Hearing impairment, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Optic atr... ORPHA:391428
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Adult Krabbe Disease
Urinary incontinence, Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Posteriorly rotated ears, Hydronephrosis, Cardiomegaly, Hypospadias, L... OMIM:616897
Ataxia-Telangiectasia
Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Cockayne Syndrome Type 1
Pigmentary retinopathy, Macrotia, Hepatomegaly, Hearing impairment, Absent brainstem auditory res... ORPHA:90321
Fucosidosis
Abnormality of the nail, Mucopolysacchariduria, Hepatomegaly, Hearing impairment, Cardiomegaly ORPHA:349
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hypoplastic toenails, Dilated cardiomyopathy, Enlarged kidney, Overfolded helix, Posteriorly rota... OMIM:608836
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macrotia, Overfolded helix, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Ca... ORPHA:324410
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Ocular albinism, Hypopigmen... ORPHA:79431
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Freckling, Hypopigmentation of hair, Sensorineural hearing impairment, Hyp... ORPHA:3214
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Cardiomegaly, Hepatomegaly OMIM:255120
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Brittle Cornea Syndrome 1
Mitral valve prolapse, Hearing impairment, Red hair OMIM:229200
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Ocular albinism, Blue i... OMIM:203100
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Hearing impairm... OMIM:602782
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Cardiomegaly, Dicarboxylic aciduria ORPHA:42
Beck-Fahrner Syndrome
Protruding ear, EEG abnormality, Cardiomegaly, Ventricular septal defect OMIM:618798
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Syndromic Diarrhea
Hypopigmentation of hair, Atrial septal defect, Abnormal heart morphology, Renal hypoplasia, Vent... ORPHA:84064
Chediak-Higashi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Giant melanosomes in melanocytes, Decreased nerv... OMIM:214500
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence, Absent brainstem auditory responses, Sensorineural hearing impairment, Opti... ORPHA:101085
Mucopolysaccharidosis Type 3
Hirsutism, Coarse hair, Sensorineural hearing impairment, Cardiomegaly, Abnormal myocardium morph... ORPHA:581
Vici Syndrome
Penile hypospadias, Albinism, Hypopigmentation of hair, Ocular albinism, Sensorineural hearing im... OMIM:242840
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Trisomy 10P
Low voltage EEG, Multiple renal cysts, Macrotia, Abnormal heart morphology, EEG with burst suppre... ORPHA:171929
Fucosidosis
Oligosacchariduria, Hepatomegaly, Hearing impairment, Thick eyebrow, Cardiomegaly, Splenomegaly OMIM:230000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic c... OMIM:201475
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Overfolded helix, Abnormal cardiac septum ... ORPHA:96169
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Microtia OMIM:613320
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality, Hypopigmentation of the skin ORPHA:411511
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Symptomatic Form Of Hemochromatosis Type 1
Generalized bronze hyperpigmentation, Hepatomegaly, Hyperpigmentation of the skin, Cardiomegaly, ... ORPHA:465508
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cystic renal dysplasia, Renal tubular epithelial necrosis, Hepatomegaly, Tubuloi... ORPHA:228308
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, EEG abnormality, EEG with abnormally slow freque... ORPHA:98794
Pseudo-Torch Syndrome 3
Cardiomegaly, Acute kidney injury, Proteinuria OMIM:618886
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Optic atrophy, Cardiomegaly, 3-Methylglutaconic aciduria OMIM:619259
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Abnormality of the nail, Generalized hypopigmentation of hair, Aplas... ORPHA:238468
Sandhoff Disease
Orthostatic hypotension, Urinary incontinence, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Developmental And Epileptic Encephalopathy 95
Highly arched eyebrow, Thickened helices, EEG with burst suppression, Posteriorly rotated ears, H... OMIM:618143
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Macrotia, Hirsutism, Synophrys, Cardiomegaly, Low posterior hairline ORPHA:2463
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Abnormal eyebrow morphology, Heterochromia iridis, Premature graying of... ORPHA:163746
Sickle Cell Anemia
Hematuria, Hepatomegaly, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Hepatomegaly, Hearing impairment, Cardiomegaly, Left ventricular hypertrophy,... ORPHA:308552
Glycogen Storage Disease Ii
Hepatomegaly, Hearing impairment, Cardiomegaly, Splenomegaly OMIM:232300
Cerebrotendinous Xanthomatosis
Abnormal atrial septum morphology, Abnormal motor evoked potentials, Abnormal auditory evoked pot... ORPHA:909
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Brachial plexus neuropathy, Cardiomegaly, Right ventricular hypertrophy, Pollakisuria ORPHA:268
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Conductive hearing impairment, Pulmonic stenosis, Sensorineural... ORPHA:90354
Mend Syndrome
Spotty hypopigmentation, Aortic valve stenosis, Abnormal auditory evoked potentials, Abnormal hea... ORPHA:401973
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism, Sensorineural hearing impairmen... ORPHA:2719
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Prominent antitragus, Thick eyebrow, Cardiomegaly, Left ventricular hypertr... OMIM:245600
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Microtia OMIM:608013
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Melanocytic nevus, Ocular albinism, Long eyelash... ORPHA:79430
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Hoyeraal-Hreidarsson Syndrome
Generalized hypopigmentation of hair, Premature graying of hair, Sparse scalp hair, Generalized h... ORPHA:3322
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Mucolipidosis Ii Alpha/Beta
Mucopolysacchariduria, Hepatomegaly, Sparse and thin eyebrow, Cardiomegaly, Splenomegaly, Hypertr... OMIM:252500
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Synophrys, Urinary retention, Cardiomegaly, Hypertrichosis, Ab... ORPHA:97297
Chédiak-Higashi Syndrome
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased n... ORPHA:167
Beckwith-Wiedemann Syndrome
Posterior helix pit, Renal cortical cysts, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia,... OMIM:130650
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hearing impairment, Tinnitus, Cardiomegaly ORPHA:79280
Beckwith-Wiedemann Syndrome
Otosclerosis, Multiple renal cysts, Posterior helix pit, Enlarged kidney, Congenital megaureter, ... ORPHA:116
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Overfolded helix, Widow's peak, Coarse hair, Posteriorly rota... ORPHA:1974
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Hepatomegaly, Hypoplastic fingernail, Cardiomegaly, Abnormality of ear... ORPHA:96191
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Atrial septal defect, Micropenis, Hypopigmentation of the skin ORPHA:398069
Cystinosis, Nephropathic
Hypopigmentation of hair, Pigmentary retinopathy, Generalized aminoaciduria, Retinal pigment epit... OMIM:219800
Prader-Willi Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Generalized hypopigmentation, Micropenis, Fronta... OMIM:176270
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Micropenis, Hypopigmentation of the skin ORPHA:398079
Greenberg Dysplasia
Absent toenail, Hepatomegaly, Cardiomegaly, Hypoplastic fingernail, Hepatosplenomegaly OMIM:215140
Histiocytoid Cardiomyopathy
Ventricular septal defect, Hepatomegaly, Renal cyst, Cardiomegaly, Optic atrophy ORPHA:137675
Carney Complex
Increased urinary cortisol level, Red hair, Hirsutism, Cardiac myxoma, Cafe-au-lait spot, Multipl... ORPHA:1359
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Yunis-Varon Syndrome
Atrial septal defect, Sparse eyebrow, Ventricular septal defect, Renovascular hypertension, Spars... ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Macrotia, Sparse axillary hair, Hepatomegaly, Hypertrichosis, Cardiome... OMIM:256040
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of hair, Abnormal heart morphology, Hyperpigmentation of ... ORPHA:177907
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Williams Syndrome
Abnormal endocardium morphology, Hypercalciuria, Vesicoureteral reflux, Sensorineural hearing imp... ORPHA:904
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Hepatomegaly, Hearing impairment, Cardiomegaly, Left ventricular hypertrophy,... ORPHA:365
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Atrial septal defect, Ventricular septal defect, Low-set, posteriorly r... ORPHA:818
Menkes Disease
Hypopigmentation of hair, Woolly hair, Sparse hair, Bladder diverticulum ORPHA:565
Abetalipoproteinemia
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly ORPHA:14
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomegaly, Lef... OMIM:300967
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Stapes ankylosis, Conductive hearing impairment, Peri... ORPHA:51608
Prader-Willi-Like Syndrome
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398073
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Micropenis, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:51
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Acrodysostosis With Multiple Hormone Resistance
Hypospadias, Red hair, Blue irides, Fair hair ORPHA:280651
Singleton-Merten Syndrome 1
Onycholysis, Mitral valve calcification, High anterior hairline, Aortic valve stenosis, Cardiomeg... 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
Tmem30btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmem30btm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice, Tissue

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