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Gene: Sag MGI:98227

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Gene Summary

Name:
S-antigen, retina and pineal gland (arrestin)
Synonyms:
rod arrestin,  A930001K18Rik,  arrestin 1,  visual arrestin 1,  Arr1

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 circulating calcium level Sagtm1a(EUCOMM)Wtsi HOM Early adult 3.15×10-08
increased lean body mass Sagtm1a(EUCOMM)Wtsi HOM Early adult 4.40×10-07
decreased circulating HDL cholesterol level Sagtm1a(EUCOMM)Wtsi HOM Early adult 7.66×10-05
iris synechia Sagtm1a(EUCOMM)Wtsi HOM   Early adult 8.40×10-05
decreased circulating fructosamine level Sagtm1a(EUCOMM)Wtsi HOM Early adult 9.45×10-05
decreased total body fat amount Sagtm1a(EUCOMM)Wtsi HOM Early adult 1.42×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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 Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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Legacy Phenotype Associated Images
Sagtm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Sagtm1a(EUCOMM)Wtsi
HOM, Female, WTSI
Sagtm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Sagtm1a(EUCOMM)Wtsi
HOM, Male, WTSI
Sagtm1a(EUCOMM)Wtsi
HOM, Female, WTSI

View all 78 images

Sagtm1a(EUCOMM)Wtsi
iris synechia, HOM, Male, WTSI
Sagtm1a(EUCOMM)Wtsi
right eye, HOM, Female, WTSI
Sagtm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Sagtm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Sag 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.

The table below shows human diseases predicted to be associated to Sag by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue, Lipodystrophy, Hype... OMIM:612526
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Myopathy, Tubular Aggregate, 2
Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Hypoparathyroidism, Familial Isolated, 1
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia ORPHA:172
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Autoimmune Hypoparathyroidism
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Conjunctivitis, Hypocalcemic seiz... ORPHA:36913
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Cataract, Hypocalcemia ORPHA:2238
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Pseudohypoparathyroidism, Type Ic
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia OMIM:612462
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Alpha-Heavy Chain Disease
Hypocalcemia ORPHA:100025
Adamantinoma
Hypercalcemia ORPHA:55881
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Pseudohypoparathyroidism Type 1B
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Enamel hypoplasia, Conjunctivitis... ORPHA:94089
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Developmental ca... OMIM:616834
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Weill-Marchesani Syndrome 4
Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ... OMIM:613195
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Oculoskeletodental Syndrome
Hypercalcemia, Enamel hypoplasia, Hypocalcemia, Developmental cataract ORPHA:557003
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia OMIM:175500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
X-Linked Agammaglobulinemia
Cellulitis, Failure to thrive, Hypocalcemia, Weight loss, Conjunctivitis ORPHA:47
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Oculoskeletodental Syndrome
Elbow flexion contracture, Hypocalcemia, Developmental cataract, Hypercalcemia, Small for gestati... OMIM:618440
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Weight loss, Hypoproteinemia ORPHA:398063
Gracile Bone Dysplasia
Aniridia, Failure to thrive, Hypocalcemia OMIM:602361
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Generalized Pustular Psoriasis
Hypoalbuminemia, Obesity, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive protein con... ORPHA:247353
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures OMIM:264700
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia ORPHA:1563
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Abnormal adipose tissue morphology, Hypocalcemia ORPHA:93160
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Failure to thrive, Hypocalcemia OMIM:600081
Congenital Primary Aphakia
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... ORPHA:83461
Sanjad-Sakati Syndrome
Hyperphosphatemia, Abnormal dental enamel morphology, Hypocalcemia, Astigmatism, Corneal opacity ORPHA:2323
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Camptodactyly of finger, Small for gest... ORPHA:1617
Oculoauricular Syndrome
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Iris ... OMIM:612109
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Phacoanaphylactic Uveitis
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... ORPHA:209959
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... OMIM:602482
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ... ORPHA:26793
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Developmental cataract, Transient hypophosphatemia, Small for ge... OMIM:127000
Juvenile Nephropathic Cystinosis
Hypouricemia, Abnormal cornea morphology, Corneal crystals, Failure to thrive, Elevated circulati... ORPHA:411634
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Albers-Schönberg Osteopetrosis
Hypocalcemia ORPHA:53
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Blue Diaper Syndrome
Increased body weight, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Weight loss, Hypoproteinemia ORPHA:90362
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Failure to thrive OMIM:239199
Timothy Syndrome
Hypocalcemia OMIM:601005
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior synechiae of the anterior chamber, Band keratopathy, Ocular anterior segment dysgenesis,... OMIM:614195
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Pseudohypoparathyroidism Type 1C
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel hypoplasia, Calci... ORPHA:79444
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Multiple lipomas, Chondrocalcinosis, Hypercalcemia OMIM:145981
Hypercalcemia, Infantile, 1
Weight loss, Hypercalcemia, Failure to thrive OMIM:143880
Intermediate Uveitis
Cataract, Band keratopathy, Posterior synechiae of the anterior chamber, Macular scar, Anterior u... ORPHA:279914
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Pseudohypoparathyroidism, Type Ia
Cataract, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Enamel hypoplasia OMIM:103580
Hypocalcemic Vitamin D-Dependent Rickets
Failure to thrive, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Failure to thrive, Hypocalcemia OMIM:607143
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Hypocalcemia OMIM:259700
Celiac Disease, Susceptibility To, 1
Failure to thrive, Hypocalcemia, Weight loss, Enamel hypoplasia, Steatorrhea OMIM:212750
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Flexion contracture, Posterior synechiae of the anterior chamber, Developmental cataract, Elevate... OMIM:613154
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... ORPHA:280921
Pseudohypoparathyroidism Type 1A
Cataract, Band keratopathy, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Enamel... ORPHA:79443
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Chondrocalcinosis, Hypercalcemia ORPHA:99879
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Inguinal hernia, Hypocalcemia OMIM:235255
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... OMIM:615558
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia ORPHA:2668
Bacterial Toxic-Shock Syndrome
Cellulitis, Hypoalbuminemia, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem... ORPHA:36234
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia ORPHA:436
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Rhabdoid Tumor
Weight loss, Hypercalcemia ORPHA:69077
Diffuse Neonatal Hemangiomatosis
Hypercalcemia ORPHA:2123
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Distal Deletion 6P
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... ORPHA:96125
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Squalene Synthase Deficiency
Elbow flexion contracture, Failure to thrive in infancy, Hypocholesterolemia, Knee flexion contra... OMIM:618156
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Hypocalcemia, Decreased circulatin... ORPHA:37042
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Hypocalcemia ORPHA:746
Velocardiofacial Syndrome
Hypocalcemia, Posterior embryotoxon, Inguinal hernia, Umbilical hernia OMIM:192430
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hyperbilirubinemia, Hypocalcemia OMIM:259720
Traboulsi Syndrome
Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant... OMIM:601552
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Inguinal hernia, Hypocalcemia ORPHA:1655
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Lipodystrophy, Failure to thrive OMIM:608776
Potocki-Lupski Syndrome
Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Hypomagnesemia 3, Renal
Hyperphosphatemia, Failure to thrive, Increased circulating beta-C-terminal telopeptide concentra... OMIM:248250
Glucose-Galactose Malabsorption
Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia ORPHA:35710
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Multiple lipomas, Hypophosphatemia, Hypercalcemia OMIM:600740
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Failure to th... OMIM:266510
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior uveitis, Chorioretinal scar, Cataract, Choroidal neovascularization, Posterior synechia... ORPHA:91500
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Conjunctival whitish salt-like deposits, Enamel hypoplasia, Calcinosis, Hyperc... OMIM:211900
Pearson Syndrome
Cataract, Hypomagnesemia, Hypocalcemia, Hypokalemia, Corneal stromal edema, Hypophosphatemia, Hyp... ORPHA:699
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Failure to thrive OMIM:607765
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Lipoma, Hypocalcemic seizures, Hyperc... ORPHA:405
Infantile Myofibromatosis
Chondrocalcinosis, Hypercalcemia ORPHA:2591
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber OMIM:251750
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Failure to thrive OMIM:241500
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Cartilage-Hair Hypoplasia
Failure to thrive, Hypocalcemia ORPHA:175
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Short Syndrome
Megalocornea, Abnormal dental enamel morphology, Hypoplasia of the iris, Abnormal pupil morpholog... ORPHA:3163
Gitelman Syndrome
Hypermagnesemia, Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia,... ORPHA:358
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Failure to thrive, Slender build, Inguinal hernia, Hypocalcemia, Unconjugated hy... OMIM:613658
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Obesity, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t... ORPHA:364055
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Developmental cataract OMIM:618810
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
22Q11.2 Deletion Syndrome
Cataract, Failure to thrive, Umbilical hernia, Abnormal dental enamel morphology, Obesity, Inguin... ORPHA:567
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber,... ORPHA:79098
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Failure to thrive, Calcinosis OMIM:239200
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia, Knee flexion contracture, Hip contracture OMIM:156400
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Failure to thrive ORPHA:71
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia ORPHA:163979
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Late-Onset Isolated Acth Deficiency
Failure to thrive, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Weight loss... ORPHA:199299
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Inguinal hernia, Hypocalcemia OMIM:218330
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hyperkalemia, Hypocalcemia ORPHA:544482
Bartter Syndrome, Type 1, Antenatal
Chondrocalcinosis, Hyperchloriduria, Failure to thrive, Increased serum prostaglandin E2, Hypomag... OMIM:601678
Hennekam Syndrome
Hypocalcemia, Camptodactyly of finger ORPHA:2136
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... ORPHA:263479
Liver Disease, Severe Congenital
Failure to thrive, Umbilical hernia, Increased circulating ferritin concentration, Hyperbilirubin... OMIM:619991
Acute Adrenal Insufficiency
Failure to thrive, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Weight loss... ORPHA:95409
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Weight loss, Hypercalcemia ORPHA:29072
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Pheochromocytoma
Hypercalcemia, Developmental cataract OMIM:171300
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Failure to thrive, Hypocalcemia ORPHA:2785
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism ORPHA:54
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Developmental cataract ORPHA:93325
Maternal Uniparental Disomy Of Chromosome 4
Hypocholesterolemia, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, De... ORPHA:96180
Oguchi Disease 1
Mizuo phenomenon, Congenital stationary night blindness OMIM:258100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat tissue distrib... OMIM:212065
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin... ORPHA:14
Monosomy 13Q34
Obesity, Hypercalcemia ORPHA:96168
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Failure to thrive, Hypomagnesemia, Elbow flexion contracture, Inguinal hernia, Knee flexion contr... OMIM:619503
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Hyponatremia, Camptodactyly, Abnormal ad... ORPHA:79324
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Abnormality iris morphology, Megalocornea, Elevated circulating creatine kinase concent... ORPHA:370959
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Digeorge Syndrome
Umbilical hernia, Obesity, Hypocalcemia, Inguinal hernia, Posterior embryotoxon, Sclerocornea, Fe... OMIM:188400
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma OMIM:131100
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Failure to thrive ORPHA:476126
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia, Enamel hypoplasia, Failure to thrive OMIM:277440
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity, Hypercalcemia, Astigmatism, Hypertriglyceridemia ORPHA:369837
Dubowitz Syndrome
Hypoplasia of the iris, Megalocornea, Hypocholesterolemia, Inguinal hernia, Iris coloboma OMIM:223370
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Parathyroid Carcinoma
Chondrocalcinosis, Hypophosphatemia, Weight loss, Lipoma, Hypercalcemia ORPHA:143
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Kaufman Oculocerebrofacial Syndrome
Astigmatism, Hypocholesterolemia, Microcornea, Failure to thrive OMIM:244450
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Multiple lipomas, Weight loss, Lipoma, Hypercalcemia ORPHA:913
Addison Disease
Failure to thrive, Hyperuricemia, Hyponatremia, Decreased circulating cortisol level, Weight loss... ORPHA:85138
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Failure to thrive ORPHA:83471
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Weight loss, Hypercalcemia ORPHA:29073
Vipoma
Increased circulating cortisol level, Subcutaneous lipoma, Hypokalemia, Weight loss, Hypercalcemia ORPHA:97282
Ppoma
Weight loss, Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma ORPHA:97278
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Umbilical hernia OMIM:620330
Somatostatinoma
Increased circulating cortisol level, Subcutaneous lipoma, Weight loss, Steatorrhea, Hypercalcemia ORPHA:97283
Charge Syndrome
Cataract, Umbilical hernia, Hypocalcemia, Omphalocele, Iris coloboma OMIM:214800
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Lipoma, Chondrocalcinosis, Hypercalcemia ORPHA:99880
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Congenital diaphragmatic hernia ORPHA:250999
Tangier Disease
Hypocholesterolemia, Corneal opacity, Hypertriglyceridemia ORPHA:31150
Late-Onset Retinal Degeneration
Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretinal atrophy, Ab... ORPHA:67042
Glucagonoma
Increased circulating cortisol level, Subcutaneous lipoma, Weight loss, Steatorrhea, Hypercalcemia ORPHA:97280
Grfoma
Weight loss, Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma ORPHA:97261
Johanson-Blizzard Syndrome
Conjunctival icterus, Failure to thrive, Hypocalcemia, Increased VLDL cholesterol concentration, ... OMIM:243800
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Hypercalcemia, Reduced subcutaneous adipose tissue ORPHA:653
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Juvenile Glaucoma
Abnormality iris morphology, Abnormal anterior chamber morphology ORPHA:98977
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma ORPHA:276152
Williams Syndrome
Cataract, Abnormal circulating lipid concentration, Umbilical hernia, Abnormal dental enamel morp... ORPHA:904
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Primary hypercortisolism, Multiple lipomas, Weight loss, Hy... ORPHA:652
Oculodentodigital Dysplasia
Cataract, Microcornea, Abnormality iris morphology, Umbilical hernia, Abnormal dental enamel morp... ORPHA:2710
Sarcoidosis
Cataract, Scarring, Weight loss, Keratoconjunctivitis sicca, Hypercalcemia, Abnormal conjunctiva ... ORPHA:797
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cataract, Failure to thrive, Hypocholesterolemia, Elevated circulating 7-dehydro... OMIM:270400
Williams-Beuren Syndrome
Umbilical hernia, Failure to thrive in infancy, Obesity, Inguinal hernia, Blue irides, Flexion co... OMIM:194050
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology, Inguinal hernia, Abnormality of connective tissue ORPHA:91387
Sotos Syndrome
Ankle flexion contracture, Cataract, Umbilical hernia, Inguinal hernia, Hip contracture, Astigmat... ORPHA:821
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures OMIM:612301
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness ORPHA:75382
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Abnormality of retinal pigmentation, Retinal... ORPHA:791

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 Sag

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 Sag.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Sagtm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Sagtm1a(EUCOMM)Wtsi PMC6459510

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.

MGI Allele Allele Type Produced
Sagtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Sagtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Sagtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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