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Gene: Slc25a30 MGI:1914804

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Gene Summary

Name:
solute carrier family 25, member 30
Synonyms:
4933433D23Rik,  KMCP1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased total body fat amount Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 6.51×10-07
persistence of hyaloid vascular system Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 6.98×10-06
decreased circulating serum albumin level Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 3.83×10-05
abnormal vertebral arch morphology Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 1.62×10-05
increased lean body mass Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 1.94×10-07

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Legacy Phenotype Associated Images
Slc25a30tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 71 images

Slc25a30tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
lateral ventricle, enlarged lateral ventricles, HOM, Male, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
HOM, Male, WTSI

View all 9 images

Slc25a30tm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, left eye, HOM, Female, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
left eye, HOM, Female, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
left eye, HOM, Female, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
corneal opacity, HOM, Male, WTSI
Slc25a30tm1a(EUCOMM)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI

View all 7 images

Human diseases caused by Slc25a30 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 Slc25a30 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Lipodystrophy, Hypoalbumine... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Chylomicron Retention Disease
Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypoalbuminemi... OMIM:246700
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circula... ORPHA:103910
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Failure to thrive OMIM:617156
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Lipodystrophy, Small for gestational age, Hypoalbuminemia,... ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Disorder Of Glycosylation, Type Ih
Camptodactyly, Short neck, Hypoalbuminemia, Failure to thrive OMIM:608104
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Hypoalbuminemia, Elevated circul... OMIM:616050
Rajab Interstitial Lung Disease With Brain Calcifications 2
Scoliosis, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Scoliosis, Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Failure to thrive OMIM:602579
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Immunodeficiency 27A
Hypoalbuminemia, Weight loss OMIM:209950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Decreased body mass index, Acute hyperammonemia, Hypertrig... ORPHA:247585
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma, Posterior lenticonus ORPHA:231736
Leishmaniasis
Hypoalbuminemia, Weight loss ORPHA:507
Eosinophilic Gastroenteritis
Weight loss, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:2070
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:2494
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Flexion contracture, Abnormal subcutaneous fat tissue distribution, Hypocholesterolemia... OMIM:212065
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Scoliosis, Small for gestational age, Hypoalbuminemia, Failure to thrive, Elevated circulating cr... OMIM:619055
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Short neck, Hypoalbuminemia, Optic atrophy OMIM:617303
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Hypoalbuminemia, Failure to thrive OMIM:251880
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Thoracic kyphosis, Flexion contracture, Lumbar kyphosis, Lum... ORPHA:505248
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Flexion contracture, Hypoalbuminemia, Failure to thrive ORPHA:367
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Camptodactyly, Umbilical hernia, Hypoalbuminemia, Spina bifida occulta, Joint contract... OMIM:235510
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Hyponatremia, Decreased body weight, Hypoalbuminemia, Hyperammonemia ORPHA:1667
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Weight loss, Hypoalbuminemia, Failure to thrive ORPHA:90362
Abetalipoproteinemia
Abnormality of retinal pigmentation, Hypotriglyceridemia, Hyperbilirubinemia, Hypocholesterolemia... ORPHA:14
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Atypical scarring of skin, Flexion contracture, Decreased body weight... ORPHA:89842
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Congenital Enterovirus Infection
Hyperammonemia, Hypoalbuminemia ORPHA:292
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Cellulitis, Elevated circulating creatinine concentration, Hypoalbuminemia, Fasciit... ORPHA:36234
Avian Influenza
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating C-react... ORPHA:454836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Abnormal circulating albumin concentration, Abnormal circulating protein conc... ORPHA:86839
Galloway-Mowat Syndrome 3
Hiatus hernia, Camptodactyly, Hypoalbuminemia, Failure to thrive OMIM:617729
Galloway-Mowat Syndrome 1
Hiatus hernia, Camptodactyly, Small for gestational age, Hypoalbuminemia, Joint contracture of th... OMIM:251300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Scoliosis, Hypocalcemia, Slender build, Inguinal hernia, Hypoalbuminemia, Failure to thrive OMIM:613658
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Failure to thrive OMIM:174900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Atrophic scars, Scarring, Hypoalbuminemia, Failure to thrive ORPHA:79396
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Failure to thrive in ... ORPHA:37042
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Weight loss ORPHA:67
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia, Weight loss ORPHA:85443
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypermethioninemia, Small for gestational age, Hypoalbuminemia, ... OMIM:222470
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormal circulating lipid concentration, Weight loss, Decreased body weight... ORPHA:2298
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Cachexia, Hypoalbuminemia ORPHA:79076
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Optic nerve aplasia OMIM:120200
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Weight loss, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Primary Sclerosing Cholangitis
Hypoalbuminemia, Weight loss ORPHA:171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal dysplasia, Optic nerve hypoplasia, Retinal detac... OMIM:614643
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Tropical Endomyocardial Fibrosis
Cachexia, Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Platyspondyly, Abnormal subcutaneous fat tissue distribution, Lipodystrophy, Multiple joint contr... ORPHA:79318
Osteogenesis Imperfecta
Scoliosis, Abnormal dental enamel morphology, Abnormal form of the vertebral bodies, Biconcave ve... ORPHA:666
Myhre Syndrome
Platyspondyly, Camptodactyly, Enlarged vertebral pedicles, Vertebral fusion, Small for gestationa... OMIM:139210
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Iris coloboma, Retinal nonattachment OMIM:221900
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Microphthalmia, Syndromic 2
Scoliosis, Remnants of the hyaloid vascular system, Flexion contracture, Iris coloboma, Umbilical... OMIM:300166
Norrie Disease
Scoliosis, Remnants of the hyaloid vascular system, Ectopia lentis, Cachexia, Failure to thrive, ... ORPHA:649
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637

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 Slc25a30

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 Slc25a30.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Slc25a30tm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Slc25a30tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Slc25a30tm1a(EUCOMM)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Slc25a30tm1a(EUCOMM)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Slc25a30tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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