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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
abnormal vertebral arch morphology Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 1.62×10-05
decreased circulating serum albumin level Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 3.83×10-05
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
increased lean body mass Slc25a30tm1a(EUCOMM)Wtsi HOM Early adult 1.94×10-07

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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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DSS Histology

Images

8 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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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 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
Failure to thrive, Hypoalbuminemia OMIM:227090
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Hypoalbuminemia ORPHA:88643
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... OMIM:619868
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceride... OMIM:246700
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Alg6-Cdg
Failure to thrive, Retinal degeneration, Scoliosis, Decreased LDL cholesterol concentration, Hypo... ORPHA:79320
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circula... ORPHA:103910
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Immunodeficiency 43
Hypoalbuminemia, Hypoproteinemia OMIM:241600
Alg1-Cdg
Kyphosis, Scoliosis, Hypoalbuminemia ORPHA:79327
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Scoliosis, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Scoliosis, Hypoalbuminemia OMIM:619013
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Short neck, Camptodactyly, Elevated circulating creatinine concentration, Hypo... OMIM:608104
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age OMIM:256300
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Xfe Progeroid Syndrome
Corneal scarring, Failure to thrive, Cachexia, Scoliosis, Enamel hypoplasia, Absence of subcutane... OMIM:610965
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Immunodeficiency 27A
Weight loss, Hypoalbuminemia OMIM:209950
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... OMIM:242150
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... OMIM:267700
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma ORPHA:231736
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:398063
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... ORPHA:88618
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... ORPHA:247585
Eosinophilic Gastroenteritis
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Leishmaniasis
Weight loss, Hypoalbuminemia ORPHA:507
Ménétrier Disease
Weight loss, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... ORPHA:64753
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia, Flexion contracture ORPHA:367
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Short neck, Hypoalbuminemia, Flexion contracture OMIM:617303
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... OMIM:603553
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Failure to thrive, Small for gestational age, Elevated circulating creatine kinase concentration,... OMIM:619055
Aicardi-Goutieres Syndrome 9
Failure to thrive, Scoliosis, Optic atrophy, Hypoalbuminemia, Weight loss OMIM:619487
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Retinal detachment, Scoliosis, Camptodacty... ORPHA:79324
Wolcott-Rallison Syndrome
Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia ORPHA:1667
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Kyphosis, Flexion contracture, Hypocholesterolemia, Hypoalbuminemia, Abnormal ... OMIM:212065
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss ORPHA:90362
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Abnormality of retinal pigmentation, Flexion contracture, Short neck, Optic... ORPHA:505248
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Scoliosis, Spina bifida occulta, Camptodactyly, Hypoalbuminemia, U... OMIM:235510
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulating selenium conc... ORPHA:89842
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Optic atrophy OMIM:618329
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia ORPHA:529799
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Kyphoscoliosis, Abnormality... ORPHA:14
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration, Retinal h... ORPHA:86839
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Cellulitis, Elevated circulating creatine kinase concentration, Elevated circulatin... ORPHA:36234
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Galloway-Mowat Syndrome 3
Failure to thrive, Hiatus hernia, Hypoalbuminemia, Camptodactyly OMIM:617729
Galloway-Mowat Syndrome 1
Hiatus hernia, Joint contracture of the hand, Small for gestational age, Camptodactyly, Optic atr... OMIM:251300
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Hypoalbuminemia ORPHA:67
Al Amyloidosis
Weight loss, Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Cachexia, Decreased prealbumin level, Abnormal blood ion concentrat... ORPHA:37042
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Enamel hypoplasia, Hypoalbuminemia, Atrophic scars, Scarring ORPHA:79396
Insulin-Resistance Syndrome Type B
Decreased body weight, Abnormal circulating fatty-acid concentration, Abnormal circulating lipid ... ORPHA:2298
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Chondrocalcinosis, Hypouricemia, ... OMIM:277900
Trichohepatoenteric Syndrome 1
Failure to thrive, Small for gestational age, Hypermethioninemia, Abnormality of iron homeostasis... OMIM:222470
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration ORPHA:186
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, Hypocalcemia, Inguinal hernia, Small for gestational age, Scoli... OMIM:613658
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc coloboma, Chorioretinal ... OMIM:120200
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Cachexia, Hypoalbuminemia ORPHA:79076
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased prealbumin level, H... ORPHA:90363
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia, Weight loss ORPHA:88673
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Marburg Hemorrhagic Fever
Hypokalemia, Back pain, Hyperammonemia, Elevated circulating creatine kinase concentration, Eleva... ORPHA:99826
Smith-Lemli-Opitz Syndrome
Failure to thrive, Elevated 7-dehydrocholesterol, Hypocholesterolemia, Hypoalbuminemia, Sacral di... OMIM:270400
Primary Sclerosing Cholangitis
Weight loss, Hypoalbuminemia ORPHA:171
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated circulating creatine ki... OMIM:614643
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Failure to thrive, Hyperbilirubinemia, Inguinal her... OMIM:619534
Immunodeficiency 82 With Systemic Inflammation
Weight loss, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia OMIM:619381
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Hyaloid vascu... ORPHA:91495
Pierson Syndrome
Remnants of the hyaloid vascular system, Hypoproteinemia, Retinal detachment, Retinal hemorrhage,... OMIM:609049
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system, Iris coloboma OMIM:221900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Osteogenesis Imperfecta
Kyphosis, Dentinogenesis imperfecta, Inguinal hernia, Flexion contracture, Small for gestational ... ORPHA:666
Tropical Endomyocardial Fibrosis
Cachexia, Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Multiple joint contractures, Failure to thrive, Kyphoscoliosis, Platyspondyly, Lipodystrophy, Hyp... ORPHA:79318
Myhre Syndrome
Small for gestational age, Short neck, Platyspondyly, Enlarged vertebral pedicles, Camptodactyly,... OMIM:139210
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Decreased body weight, Remnants... OMIM:300166
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Scoliosis, Iris coloboma, Cyclopia, Chorioretinal coloboma OMIM:157170
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Sacral dimple, Umbilical hernia, Lens col... OMIM:619539
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Norrie Disease
Failure to thrive, Remnants of the hyaloid vascular system, Cachexia, Retinal detachment, Scolios... ORPHA:649

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