Gene Summary

Name:
solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
Synonyms:
Atrc2,  Cat2,  Tea

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
increased blood urea nitrogen level Slc7a2tm1b(EUCOMM)Hmgu HOM Late adult 2.14×10-06
increased circulating cholesterol level Slc7a2tm1b(EUCOMM)Hmgu HOM   Early adult 5.75×10-06
long tibia Slc7a2tm1b(EUCOMM)Hmgu HOM Early adult 4.94×10-09
increased circulating iron level Slc7a2tm1b(EUCOMM)Hmgu HOM Late adult 2.99×10-10
decreased circulating fructosamine level Slc7a2tm1b(EUCOMM)Hmgu HOM   Late adult 8.03×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Bone  Wholemount images heterozygote 50% (1 of 2)
Brain  Wholemount images heterozygote 50% (1 of 2)
Cerebellum  Wholemount images heterozygote 50% (1 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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)
bone 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)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
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%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
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)
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)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 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.

Echo

M-Mode Images

68 Images

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Adult LacZ

LacZ Images Wholemount

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

4 Images

Human diseases caused by Slc7a2 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 Slc7a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... OMIM:144250
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... OMIM:615517
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... OMIM:620121
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Femoral bowing, Flared metaphysis, Flatt... ORPHA:93356
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Blount Disease
Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysis, Tibial bowing ORPHA:2768
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... ORPHA:2502
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Genetic Hyperferritinemia Without Iron Overload
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... ORPHA:254704
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Analbuminemia
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... OMIM:619868
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Acromesomelic Dysplasia 2C
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... OMIM:201250
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Clinodactyly, Short foot, Small hand, Hypercholesterolemia ORPHA:254531
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... ORPHA:85188
Weismann-Netter Syndrome
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... ORPHA:3344
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Short palm, Prominent... OMIM:300106
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Uremic Pruritus
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia ORPHA:94059
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia OMIM:613845
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... OMIM:113310
Osteosclerosis With Ichthyosis And Fractures
Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing OMIM:166740
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Laurin-Sandrow Syndrome
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... OMIM:135750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Temple Syndrome
Short foot, Small hand, Clinodactyly, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly, Hypoalb... OMIM:616730
Laron Syndrome
Brachydactyly, Short toe, Hypercholesterolemia ORPHA:633
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... OMIM:602111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... OMIM:250220
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Metaphyseal irregularity, Genu valgum, Bulging epiphyses, Tibial bowing, Femoral bowi... OMIM:600785
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... OMIM:605814
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Orthostatic Hypotension 1
Increased blood urea nitrogen, Hypomagnesemia OMIM:223360
9Q31.1Q31.3 Microdeletion Syndrome
Short clavicles, Tapered finger, Small hand, Hypercholesterolemia ORPHA:401923
Hemochromatosis Type 2
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:79230
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia OMIM:616267
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron OMIM:231100
Smith-Magenis Syndrome
Short palm, Hypertriglyceridemia, Brachydactyly, Hypercholesterolemia OMIM:182290
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Clinodactyly, Short foot, Small hand, Hypercholesterolemia ORPHA:96184
Tibial Hemimelia
Absent tibia OMIM:275220
Galloway-Mowat Syndrome 7
Hypercholesterolemia, Hallux valgus, Clinodactyly, Partial duplication of thumb phalanx, Arachnod... OMIM:618348
Hereditary Renal Hypouricemia
Increased blood urea nitrogen, Hypouricemia ORPHA:94088
Hemochromatosis, Type 2B
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased serum iron OMIM:613313
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... OMIM:238600
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:615812
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet), Osteolyti... ORPHA:2457
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Smith-Magenis Syndrome
Toe syndactyly, Hand polydactyly, Clinodactyly of the 5th finger, Brachydactyly, Hypercholesterol... ORPHA:819
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Congenital Analbuminemia
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia ORPHA:209902
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypercholesterolemia ORPHA:77296
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Spondylometaphyseal Dysplasia, Sedaghatian Type
Iliac crest serration, Short metacarpal, Long fibula, Metaphyseal chondrodysplasia, Short palm, C... ORPHA:93317
Megalocornea-Intellectual Disability Syndrome
Metatarsus valgus, Genu varum, Tapered finger, Hypercholesterolemia ORPHA:2479
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... ORPHA:766
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Mandibuloacral Dysplasia With Type A Lipodystrophy
Coxa valga, Acroosteolysis of distal phalanges (feet), Calcinosis, Camptodactyly, Down-sloping sh... OMIM:248370
Lysosomal Acid Lipase Deficiency
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... OMIM:278000
Dysbetalipoproteinemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... ORPHA:412
Megalocornea-Mental Retardation Syndrome
Genu valgum, Arachnodactyly, Hypercholesterolemia OMIM:249310
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Advanced ossification of carpal bones, Short femoral neck, Metaphyseal ... OMIM:610442
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Triangular shaped distal phalanges of the hand, Short m... OMIM:271665
Congenital Generalized Lipodystrophy
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia ORPHA:528
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Preaxial foot polydactyly, Hypercholesterolemia, Postaxial hand polydactyly, ... OMIM:619471
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration OMIM:616278
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic i... OMIM:615234
Aceruloplasminemia
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration OMIM:604290
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... ORPHA:90674
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... ORPHA:470
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased transferrin saturation, Increased circulating ferritin concentration, Increased serum i... ORPHA:300298
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Decreased serum iron, Reduced hap... ORPHA:447
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... ORPHA:90041
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Finger swelling, Genu valgum, Elevated maternal serum alpha-fetoprotein,... OMIM:309000
Oculocerebrorenal Syndrome Of Lowe
Hyperaldosteronism, Genu valgum, Hyponatremia, Hypophosphatemia, Hypokalemia, Hip dislocation, Hy... ORPHA:534
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia ORPHA:79259
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Symptomatic Form Of Hemochromatosis Type 1
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:465508
Alagille Syndrome 1
Short distal phalanx of finger, Hypertriglyceridemia, Hypoplasia of the ulna, Hypercholesterolemia OMIM:118450
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad first metatarsal, Polydactyly, Hyperbilirubinemia, Syndactyly, Increased circulating ferrit... OMIM:619534
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic cation concentra... ORPHA:309854
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Abnormality of iron homeostasis, Increased serum iron, Hypoalbuminemia OMIM:222470
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypercholesterolemia OMIM:606721
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064

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 Slc7a2

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 Slc7a2.

No publications found that use IMPC mice or data for Slc7a2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

MGI Allele Allele Type Produced
Slc7a2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Slc7a2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc7a2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

The IMPC Newsletter

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

Subscribe to newsletter