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Gene: Ttr MGI:98865

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Gene Summary

Name:
transthyretin
Synonyms:
prealbumin

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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.

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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.

Phenotype associated images not available

Human diseases caused by Ttr 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 associated to Ttr by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Attrv122I Amyloidosis
Cardiac amyloidosis ORPHA:85451
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Attrv30M Amyloidosis
ORPHA:85447

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Hemochromatosis, Type 5
Increased circulating ferritin concentration OMIM:615517
Hypoalphalipoproteinemia, Primary, 2, Intermediate
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration OMIM:619836
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Myeloma, Multiple
Amyloidosis OMIM:254500
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Variant Abeta2M Amyloidosis
Cardiac amyloidosis, Hepatic amyloidosis, Amyloidosis of peripheral nerves, Cutaneous amyloidosis... ORPHA:314652
Vitamin D-Dependent Rickets, Type 3
Low serum calcitriol, Hypophosphatemia, Hypocalcemia, Elevated circulating parathyroid hormone le... OMIM:619073
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin A, Low levels of vitamin E, Low levels of vitamin D, Decreased circulating ... OMIM:619481
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Low levels of vitamin A OMIM:115300
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Hypercholanemia, Familial, 2
Low levels of vitamin D, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hypobetalipoproteinemia, Familial, 1
Low levels of vitamin A, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypochole... OMIM:615558
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Abnormality of vitamin E metabolism, Hypertriglyceridemi... ORPHA:209902
Maternal Uniparental Disomy Of Chromosome 4
Low levels of vitamin A, Abetalipoproteinemia, Elevated circulating creatine kinase concentration... ORPHA:96180
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Low levels of vitamin A OMIM:277350
Carpal Tunnel Syndrome
Reduced circulating vitamin B6 level OMIM:115430
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated alpha-fetoprotein OMIM:615970
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Diarrhea 6
Vitamin B12 deficiency OMIM:614616
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Low levels of vitamin B1 ORPHA:369873
Formiminoglutamic Aciduria
Abnormality of folate metabolism, Increased blood folate concentration, Abnormal circulating hist... ORPHA:51208
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypercalcemia, High serum calc... OMIM:617994
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Hypergastrinemia OMIM:126840
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Low levels of vitamin A, D... ORPHA:14
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypophosphatemia, Incr... ORPHA:157215
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I OMIM:126850
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis OMIM:142680
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Cardiac amyloidosis, Renal amyloidosis, Renal interstitial amyloid deposits ORPHA:439232
Diamond-Blackfan Anemia 9
Low levels of vitamin D OMIM:613308
Imerslund-Grasbeck Syndrome 1
Vitamin B12 deficiency, Abnormal blood folate concentration, Malabsorption of Vitamin B12 OMIM:261100
Shwachman-Diamond Syndrome
Hypoamylasemia, Decreased response to growth hormone stimulation test, Low levels of vitamin A, L... ORPHA:811
Pancreatic Triacylglycerol Lipase Deficiency
Low levels of vitamin A, Low levels of vitamin K, Low levels of vitamin E, Low levels of vitamin D ORPHA:309031
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia OMIM:165550
Primary Sclerosing Cholangitis
Low levels of vitamin A, Low levels of vitamin K, Low levels of vitamin E, Type I diabetes mellit... ORPHA:171
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Elevated circulating creatine kinase concentration, Low levels of vitamin K ORPHA:565899
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Low levels of vitamin B2 OMIM:615026
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D, Hypolipidemia OMIM:617308
Hypercholanemia, Familial 1
Low levels of vitamin K, Increased serum bile acid concentration OMIM:607748
African Iron Overload
Increased circulating ferritin concentration, Increased circulating cortisol level, Low levels of... ORPHA:139507
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Primary hypothyroidism, Abnormality of v... ORPHA:95427
Familial Mediterranean Fever
Amyloidosis, Renal amyloidosis OMIM:249100
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Hypocalcemia, Hyperinsulinemic hypoglycemia, Hyperb... OMIM:619991
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Abnormality of vitamin metabolism... ORPHA:90362
Q Fever
Amyloidosis ORPHA:781
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, High serum calcitriol OMIM:600785
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Congenital Bile Acid Synthesis Defect Type 4
Type II diabetes mellitus, Low levels of vitamin K, Elevated circulating creatine kinase concentr... ORPHA:79095
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Autosomal Recessive Polycystic Kidney Disease
Low levels of vitamin A, Low levels of vitamin K, Low levels of vitamin E, Hyponatremia, Low leve... ORPHA:731
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism, Hyperbilirubinemia ORPHA:79302
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Low levels of vitamin A, Unconjugated hyperbilirubinemia, Hypoalbuminemia, Low leve... OMIM:613658
Imerslund-Grasbeck Syndrome 2
Vitamin B12 deficiency OMIM:618882
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Low levels of vitamin B1, Delayed puberty ORPHA:90646
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Vitamin B12 deficiency, Hyperbilirubinemia, Hyperho... OMIM:601775
Lead Poisoning
Abnormality of vitamin D metabolism, Increased LDL cholesterol concentration, Decreased HDL chole... ORPHA:330015
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Classic Galactosemia
Low levels of vitamin D, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:79239
Alpha-Fetoprotein Deficiency
Decreased levels of alpha-fetoprotein OMIM:615969
Generalized Eruptive Histiocytosis
Abnormal vitamin B12 level ORPHA:157991
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol, Isosexual precocious puberty ORPHA:2788
Congenital Disorder Of Glycosylation, Type Iit
Abnormal protein O-linked glycosylation, Decreased HDL cholesterol concentration, Decreased serum... OMIM:618885
Chylomicron Retention Disease
Hypocholesterolemia, Abnormality of vitamin metabolism ORPHA:71
Vitamin D-Dependent Rickets, Type 2A
Secondary hyperparathyroidism, Hypophosphatemia, Elevated circulating parathyroid hormone level, ... OMIM:277440
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Low serum calcitriol, Hypoproteinemia, Hypoalbumi... ORPHA:398063
Maxillonasal Dysplasia
Low levels of vitamin K ORPHA:1248
Celiac Disease, Susceptibility To, 1
Reduced blood folate concentration, Hypocalcemia, Low levels of vitamin K, Vitamin B12 deficiency... OMIM:212750
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc coloboma OMIM:120200
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Low levels of vitamin D, Hypocalcemia ORPHA:89937
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Abnormality of vitamin D metabolism, Decreased serum zinc, Diabetes mellitus ORPHA:541423
Hypocalcemic Vitamin D-Dependent Rickets
Secondary hyperparathyroidism, Low serum calcitriol, Hypophosphatemia, Hypocalcemia, Elevated cir... ORPHA:289157
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Intrinsic Factor Deficiency
Malabsorption of Vitamin B12 OMIM:261000
Hyperprolinemia Type 2
Hyperalaninemia, Hyperprolinemia, Hyperglycinemia, Reduced circulating vitamin B6 level ORPHA:79101
Congenital Bile Acid Synthesis Defect Type 2
Low levels of vitamin E, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, H... ORPHA:79303
Infantile Nephropathic Cystinosis
Abnormality of vitamin D metabolism, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentrat... ORPHA:411629
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis OMIM:134610
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Low levels of vitamin E, Increased LDL cholesterol concentration, Hyperchol... OMIM:277460
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy... ORPHA:89842
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia, High serum calcitriol OMIM:241530
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Hypophosphatemic Rickets
Low serum calcitriol, Precocious puberty, Hypophosphatemia, Hyperthyroidism, Elevated circulating... ORPHA:437
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Abnormal transferrin saturation, Low levels of vita... ORPHA:309854
Muckle-Wells Syndrome
Optic atrophy, Renal amyloidosis ORPHA:575
Marchiafava-Bignami Disease
Low levels of vitamin B1 ORPHA:221074
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypothyroidism, Hypocalcemic tetany, Elevated circul... ORPHA:411634
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia, High serum calcitriol OMIM:300554
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Remnants of the hyaloid vascular system, Hyaloid vascu... ORPHA:91495
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Abnormal vitamin B12 level ORPHA:544503
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormal circulating selenium concentration, Decreased plasma total carnitine, Delayed puberty, D... ORPHA:79408
Multiple Endocrine Neoplasia Type 2
Cutaneous lichen amyloidosis ORPHA:653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysp... OMIM:614643
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Autosomal Recessive Hypophosphatemic Rickets
Abnormality of vitamin D metabolism, Low serum calcitriol, Hypophosphatemic rickets, Renal hypoph... ORPHA:289176
Dent Disease 1
Hypophosphatemia, High serum calcitriol OMIM:300009
Imerslund-Gräsbeck Syndrome
Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level, Malabsorption of Vitamin B12 ORPHA:35858
Multiple Myeloma
Abnormality of vitamin B12 metabolism, Hyperproteinemia, Elevated circulating creatinine concentr... ORPHA:29073
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Hypothyroidism, Hypertriglyceridemia, Hyperuricemia, Delayed puberty, Hypercholes... ORPHA:79259
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1 ORPHA:79244
Diamond-Blackfan Anemia 7
Low levels of vitamin D OMIM:612562
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hypophosphatemia, Hypokalemia, Hypoammonemia... ORPHA:534
Dent Disease
Elevated circulating creatine kinase concentration, High serum calcitriol, Renal hypophosphatemia ORPHA:1652
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Eiken Syndrome
Low levels of vitamin D OMIM:600002
Attrv122I Amyloidosis
Cardiac amyloidosis ORPHA:85451
Epidermal Nevus Syndrome
Low levels of vitamin D ORPHA:35125
Pearson Syndrome
Hypoparathyroidism, Adrenal insufficiency, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Decreas... ORPHA:699
Chondrodysplasia Punctata, Autosomal Dominant
Low levels of vitamin K OMIM:118650
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin concentration,... ORPHA:79277
Mucopolysaccharidosis Type 3
Low levels of vitamin D ORPHA:581
Pierson Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Retinal hemorrhage OMIM:609049
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Abnormality of the endocrine system, Precocious puberty, Decreased serum iron, Increased circulat... ORPHA:438213
Autoimmune Lymphoproliferative Syndrome
Abnormal vitamin B12 level, Thyroid carcinoma, Thyroid adenoma, Thyroiditis ORPHA:3261
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Autosomal Dominant Cutis Laxa
Low levels of vitamin D ORPHA:90348
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment OMIM:300166
Lysinuric Protein Intolerance
Hepatic amyloidosis, Renal amyloidosis ORPHA:470
Norrie Disease
Optic atrophy, Remnants of the hyaloid vascular system, Retinal detachment ORPHA:649
Holoprosencephaly 2
Remnants of the hyaloid vascular system OMIM:157170
Neuroocular Syndrome
Remnants of the hyaloid vascular system OMIM:619539
Hyperthyroxinemia, Dystransthyretinemic
Euthyroid hyperthyroxinemia OMIM:145680
Attrv30M Amyloidosis
ORPHA:85447

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 Ttr

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 Ttr.

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

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MGI Allele Allele Type Produced
Ttrtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ttrem2(IMPC)H Indel Mice
Ttrtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ttrem1(IMPC)H Indel Mice
Ttrtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ttrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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