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Gene: Ttr MGI:98865

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Gene Summary

Name:
transthyretin
Synonyms:
prealbumin

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 locomotor activity Ttrem1(IMPC)H HOM   Early adult 6.85×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 1
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
Hypoalphalipoproteinemia, Primary, 2, Intermediate
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration OMIM:619836
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
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, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, Renal amyloidosis, ... ORPHA:314652
Vitamin D-Dependent Rickets, Type 3
Low serum calcitriol, Decreased circulating calcifediol concentration, Elevated circulating parat... OMIM:619073
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Low levels of vitamin D, Unconjugated hyperbilirubinemia OMIM:619256
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased circulating v... ORPHA:96180
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Abnormal circulating vitamin A concentration, Increased LDL cholesterol con... ORPHA:209902
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Carpal Tunnel Syndrome 1
Reduced circulating vitamin B6 level OMIM:115430
Amyloidosis, Familial Visceral
Generalized amyloid deposition OMIM:105200
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Osteoporosis, Juvenile
Low serum calcitriol OMIM:259750
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Aa Amyloidosis
Amyloidosis, Renal amyloidosis ORPHA:85445
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased circulating vitamin E concentration, Decreased... ORPHA:14
Formiminoglutamic Aciduria
Increased blood folate concentration, Abnormal circulating histidine concentration, Abnormality o... ORPHA:51208
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration ORPHA:352641
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Hypergastrinemia OMIM:126840
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, High serum calcitriol, Elevated circulating parathyroid hormone level, Hyperphosph... OMIM:617994
Shwachman-Diamond Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Low levels of vitamin D... ORPHA:811
Pancreatic Triacylglycerol Lipase Deficiency
Reduced circulating vitamin A concentration, Low levels of vitamin D, Decreased circulating vitam... ORPHA:309031
Obesity Due To Sim1 Deficiency
Low levels of vitamin B1, Hyperinsulinemia ORPHA:369873
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, High se... ORPHA:157215
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I OMIM:126850
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Cardiac amyloidosis, Renal amyloidosis ORPHA:439232
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis OMIM:142680
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Diamond-Blackfan Anemia 9
Low levels of vitamin D OMIM:613308
Primary Sclerosing Cholangitis
Decreased circulating vitamin E concentration, Thyroiditis, Reduced circulating vitamin A concent... ORPHA:171
Imerslund-Grasbeck Syndrome 1
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood folate concentration OMIM:261100
Intrinsic Factor Deficiency
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Reduced haptoglobin level OMIM:261000
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Low levels of vitamin K, Elevated circulating creatine kinase concentration ORPHA:565899
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Low levels of vitamin B2 OMIM:615026
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Dietary Iron Overload Disease
Diabetes mellitus, Increased circulating ferritin concentration, Abnormal thyroid morphology, Ele... ORPHA:139507
Bile Acid Malabsorption, Primary, 2
Low levels of vitamin D, Decreased circulating vitamin E concentration, Decreased circulating che... OMIM:619481
Hypercholanemia, Familial 1
Low levels of vitamin K, Increased serum bile acid concentration OMIM:607748
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Central hypothyroidism, Abnormality of v... ORPHA:95427
Familial Mediterranean Fever
Amyloidosis, Renal amyloidosis OMIM:249100
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Decreased circulating vitamin E concentration, Reduced circulating vitamin A concen... ORPHA:731
Primary Intestinal Lymphangiectasia
Abnormality of vitamin metabolism, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Low levels of v... ORPHA:90362
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Fanconi Renotubular Syndrome 2
High serum calcitriol, Elevated circulating parathyroid hormone level, Hypophosphatemia OMIM:613388
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Decreased circulating parathyroid hormone level, Abnormal circulating calcium concentration, High... OMIM:241530
Q Fever
Amyloidosis ORPHA:781
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
High serum calcitriol, Elevated circulating parathyroid hormone level OMIM:600785
Congenital Bile Acid Synthesis Defect Type 4
Low levels of vitamin K, Hypogonadism, Type II diabetes mellitus, Elevated circulating creatine k... ORPHA:79095
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism, Hyperbilirubinemia ORPHA:79302
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased circulating vitamin E co... OMIM:615558
Bile Acid Synthesis Defect, Congenital, 6
Low levels of vitamin D, Hypolipidemia OMIM:617308
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Low serum calcitriol, Decreased circulating calcifediol concentration, Elevated circulating parat... OMIM:264700
Deafness-Hypogonadism Syndrome
Low levels of vitamin B1, Hypergonadotropic hypogonadism, Delayed puberty ORPHA:90646
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Vitamin B12 deficiency, Hyperbilirubinemia, Hyperho... OMIM:601775
Classic Galactosemia
Decreased serum insulin-like growth factor 1, Low levels of vitamin D, Delayed puberty ORPHA:79239
Lead Poisoning
Decreased HDL cholesterol concentration, Abnormality of vitamin D metabolism, Increased LDL chole... ORPHA:330015
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Decreased circulating calcifediol concentration, Hyperbi... OMIM:214950
Chylomicron Retention Disease
Hypertriglyceridemia, Abnormality of vitamin metabolism, Hypocholesterolemia ORPHA:71
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Pineal cyst, Decreased serum creatinine, Low levels of v... OMIM:618885
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Celiac Disease, Susceptibility To, 1
Vitamin B12 deficiency, Thyroiditis, Reduced blood folate concentration, Hypocalcemia, Delayed pu... OMIM:212750
Osteoporosis-Pseudoglioma Syndrome
Low serum calcitriol, Isosexual precocious puberty ORPHA:2788
Refractory Celiac Disease
Low serum calcitriol, Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoprotei... ORPHA:398063
Generalized Eruptive Histiocytosis
Abnormal vitamin B12 level ORPHA:157991
Vitamin D-Dependent Rickets, Type 2A
High serum calcitriol, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... OMIM:277440
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system OMIM:120200
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Maxillonasal Dysplasia
Low levels of vitamin K ORPHA:1248
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Decreased serum zinc, Diabetes mellitus, Abnormality of vitamin D metabolism ORPHA:541423
Autosomal Dominant Hypophosphatemic Rickets
Low levels of vitamin D, Hypocalcemia, Hypophosphatemia ORPHA:89937
Hypocalcemic Vitamin D-Dependent Rickets
Low serum calcitriol, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyp... ORPHA:289157
Hyperprolinemia Type 2
Hyperalaninemia, Reduced circulating vitamin B6 level, Hyperglycinemia, Hyperprolinemia ORPHA:79101
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Decreased circulating vitamin E concentration, Hyperbilirubinemia,... ORPHA:79303
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Decreased circulating calcifediol concentration, Hypocalcemia, Hypophosphatemia OMIM:600081
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormality of vitamin D met... ORPHA:411629
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis OMIM:134610
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc... ORPHA:89842
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased ci... OMIM:277460
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, High serum calcitriol, Hyperphosphatemia OMIM:211900
Marchiafava-Bignami Disease
Low levels of vitamin B1 ORPHA:221074
Muckle-Wells Syndrome
Optic atrophy, Renal amyloidosis ORPHA:575
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis OMIM:120100
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Abnormal blood folate concentration, Decreased CSF 5-methyltetrahydrofolate concentration OMIM:613839
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Decreased circulating vitamin E concentration, Hyp... ORPHA:309854
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Decreased adenosylcobalamin, Hyperammonemia, Hyperglycinemia, Abnormal vi... OMIM:251100
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, High serum calcitriol, Hypophosphatemia OMIM:300554
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Abnormal vitamin B12 level ORPHA:544503
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased plasma total carnitine, Decreased serum zinc, Abnormality of vitamin metabolism, Delaye... ORPHA:79408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Multiple Endocrine Neoplasia Type 2
Cutaneous lichen amyloidosis ORPHA:653
Autosomal Recessive Hypophosphatemic Rickets
Low serum calcitriol, Renal hypophosphatemia, Abnormality of vitamin D metabolism, Hypophosphatem... ORPHA:289176
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Abnormality of vi... ORPHA:29073
Dent Disease 1
High serum calcitriol, Hypophosphatemia OMIM:300009
Imerslund-Gräsbeck Syndrome
Malabsorption of Vitamin B12, Vitamin B12 deficiency, Abnormal blood 5-methyltetrahydrofolate level ORPHA:35858
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Pyruvate Dehydrogenase E2 Deficiency
Low levels of vitamin B1 ORPHA:79244
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Thyroiditis, Hyperuricemia, Delayed puberty, Hypercholester... ORPHA:79259
Bone Marrow Failure Syndrome 3
Low levels of vitamin D, Decreased circulating vitamin E concentration OMIM:617052
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hyperparathyroidism, Hypoammonemia, Hypophosphatemia, Abnormal circulating calcium-... ORPHA:534
Diamond-Blackfan Anemia 7
Low levels of vitamin D OMIM:612562
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating thyroid ... OMIM:619991
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Dent Disease
High serum calcitriol, Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Epidermal Nevus Syndrome
Low levels of vitamin D ORPHA:35125
Attrv122I Amyloidosis
Cardiac amyloidosis ORPHA:85451
Eiken Syndrome
Low levels of vitamin D OMIM:600002
Pearson Syndrome
Hypoparathyroidism, Malabsorption of Vitamin B12, Diabetes mellitus, Decreased response to growth... ORPHA:699
Atelis Syndrome 2
Remnants of the hyaloid vascular system OMIM:620185
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Chondrodysplasia Punctata, Autosomal Dominant
Low levels of vitamin K OMIM:118650
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Unconjugated hyperbilirubinemia, Increased erythroc... ORPHA:79277
Rajab Interstitial Lung Disease With Brain Calcifications 1
Low levels of vitamin D, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia OMIM:613658
Transcobalamin Ii Deficiency
Abnormal blood folate concentration OMIM:275350
Mucopolysaccharidosis Type 3
Low levels of vitamin D ORPHA:581
Pierson Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage OMIM:609049
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, Abnormality of the... ORPHA:438213
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Autoimmune Lymphoproliferative Syndrome
Abnormal vitamin B12 level, Thyroid carcinoma, Thyroiditis, Thyroid adenoma ORPHA:3261
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Autosomal Dominant Cutis Laxa
Low levels of vitamin D ORPHA:90348
Lysinuric Protein Intolerance
Hepatic amyloidosis, Renal amyloidosis ORPHA:470
Norrie Disease
Remnants of the hyaloid vascular system, Retinal detachment, Optic atrophy ORPHA:649
Neuroocular Syndrome
Remnants of the hyaloid vascular system OMIM:619539
Holoprosencephaly 2
Remnants of the hyaloid vascular system OMIM:157170
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.

Order Mouse and ES Cells

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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
Ttrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ttrtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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