Gene Summary

Name:
transthyretin
Synonyms:
prealbumin

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
decreased locomotor activity Ttrem1(IMPC)H HOM   Early adult 7.30×10-05

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 circulating OMIM:115430
Amyloidosis, Hereditary Systemic 1
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
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
Hypoalphalipoproteinemia, Primary, 2, Intermediate
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration OMIM:619836
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Myeloma, Multiple
Amyloidosis OMIM:254500
Tumoral Calcinosis, Normophosphatemic, Familial
Abnormal blood phosphate concentration, Abnormality of vitamin D metabolism, Abnormal circulating... OMIM:610455
Hypercarotenemia And Vitamin A Deficiency, Autosomal Dominant
Reduced circulating vitamin A concentration, Increased circulating beta-carotene concentration OMIM:115300
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Amyloidosis, Primary Localized Cutaneous, 1
Cutaneous amyloidosis OMIM:105250
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Variant Abeta2M Amyloidosis
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ... ORPHA:314652
Bile Acid Malabsorption, Primary, 2
Reduced circulating vitamin A concentration, Decreased circulating vitamin E concentration, Decre... OMIM:619481
Vitamin D-Dependent Rickets, Type 3
Elevated circulating parathyroid hormone level, Hypocalcemia, Low serum calcitriol, Decreased cir... OMIM:619073
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Amyloidosis, Hereditary Systemic 2
Generalized amyloid deposition, Renal amyloidosis OMIM:105200
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Decreased circulating vitamin D concentration, Increased serum b... OMIM:619256
Hypobetalipoproteinemia, Familial, 1
Reduced circulating vitamin A concentration, Decreased HDL cholesterol concentration, Hypocholest... OMIM:615558
Amyloidosis, Finnish Type
Generalized amyloid deposition, Renal glomerular amyloid deposition, Optic neuropathy, Cardiac am... OMIM:105120
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Abnormal circulating vitamin A concentration, Abnormal c... ORPHA:209902
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Reduced circulating vitamin A concentration, Hypocholesterolemia, Decre... ORPHA:96180
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Reduced circulating vitamin A concentration OMIM:277350
Carpal Tunnel Syndrome 1
Reduced circulating vitamin B6 circulating OMIM:115430
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Aa Amyloidosis
Renal amyloidosis, Amyloidosis ORPHA:85445
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Decreased circulating vitamin B1 concentration ORPHA:369873
Abetalipoproteinemia
Hypoalbuminemia, Reduced circulating vitamin A concentration, Hypotriglyceridemia, Hypocholestero... ORPHA:14
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Increased blood folate concentration, Abnormality o... ORPHA:51208
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hypergastrinemia, Hyperpepsinogenemia I OMIM:126840
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Renal interstitial amyloid deposits, Renal amyloidosis, Cardiac amyloidosis ORPHA:439232
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I OMIM:126850
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatic amyloidosis OMIM:142680
Amyloidosis, Hereditary Systemic 1
Amyloidosis OMIM:105210
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatemic rickets, Increa... ORPHA:157215
Diamond-Blackfan Anemia 9
Decreased circulating vitamin D concentration OMIM:613308
Imerslund-Grasbeck Syndrome 1
Abnormal blood folate concentration, Decreased circulating vitamin B12 concentration, Malabsorpti... OMIM:261100
Shwachman-Diamond Syndrome
Hypoamylasemia, Reduced circulating vitamin A concentration, Hypopituitarism, Decreased response ... ORPHA:811
Intrinsic Factor Deficiency
Decreased circulating vitamin B12 concentration, Malabsorption of Vitamin B12, Reduced haptoglobi... OMIM:261000
Pancreatic Triacylglycerol Lipase Deficiency
Reduced circulating vitamin A concentration, Decreased circulating vitamin K concentration, Decre... ORPHA:309031
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Primary Sclerosing Cholangitis
Hypoalbuminemia, Type I diabetes mellitus, Reduced circulating vitamin A concentration, Decreased... ORPHA:171
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Decreased circulating vitamin K concentration, Elevated circulating creatine kinase concentration ORPHA:565899
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating vitamin B2 concentration OMIM:615026
Pernicious Anemia
Malabsorption of Vitamin B12 OMIM:170900
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypercalcemia, High serum calc... OMIM:617994
Dietary Iron Overload Disease
Abnormal thyroid morphology, Increased circulating cortisol level, Increased circulating ferritin... ORPHA:139507
Hypercholanemia, Familial 1
Decreased circulating vitamin K concentration, Increased serum bile acid concentration OMIM:607748
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis ORPHA:98849
Secondary Short Bowel Syndrome
Central hypothyroidism, Primary hypothyroidism, Low plasma citrulline, Abnormality of vitamin met... ORPHA:95427
Liver Disease, Severe Congenital
Reduced circulating vitamin A concentration, Increased circulating ferritin concentration, Hyperb... OMIM:619991
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Abnormality of vitamin metabolism, Hypoproteinemia... ORPHA:90362
Familial Mediterranean Fever
Renal amyloidosis, Amyloidosis OMIM:249100
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
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Reduced circulating vitamin A concentration, Hypocalcemia, Unconjugated hyperbil... OMIM:613658
Q Fever
Amyloidosis ORPHA:781
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Elevated circulating parathyroid hormone level, High serum calcitriol OMIM:613388
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, High serum calcifediol, Hypophosphatemia, High serum calcitriol, Abnorm... OMIM:241530
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating parathyroid hormone level, High serum calcitriol OMIM:600785
Autosomal Recessive Polycystic Kidney Disease
Reduced circulating vitamin A concentration, Decreased circulating vitamin K concentration, Incre... ORPHA:731
Congenital Bile Acid Synthesis Defect Type 4
Hypogonadism, Decreased circulating vitamin K concentration, Type II diabetes mellitus, Elevated ... ORPHA:79095
Congenital Bile Acid Synthesis Defect Type 3
Abnormality of vitamin metabolism, Hyperbilirubinemia ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 6
Hypolipidemia, Decreased circulating vitamin D concentration OMIM:617308
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Hypocalcemia, Low serum calcitriol, Decreased cir... OMIM:264700
Deafness-Hypogonadism Syndrome
Decreased circulating vitamin B1 concentration, Delayed puberty, Hypergonadotropic hypogonadism ORPHA:90646
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Folate Malabsorption, Hereditary
Reduced blood folate concentration, Impaired folate absorption OMIM:229050
Lead Poisoning
Abnormality of vitamin D metabolism, Decreased circulating osteocalcin level, Increased LDL chole... ORPHA:330015
Megaloblastic Anemia, Folate-Responsive
Decreased circulating vitamin B12 concentration, Hyperbilirubinemia, Hyperhomocystinemia, Increas... OMIM:601775
Classic Galactosemia
Decreased serum insulin-like growth factor 1, Delayed puberty, Decreased circulating vitamin D co... ORPHA:79239
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Abnormal circulating vitamin B12 concentration, Abnormal blood folate concentration, Hypomethioni... OMIM:250940
Bile Acid Synthesis Defect, Congenital, 4
Decreased circulating calcifediol concentration, Decreased circulating vitamin E concentration, H... OMIM:214950
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Pineal cyst, Decreased HDL cholesterol concentration, Decreased serum creati... OMIM:618885
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Generalized Eruptive Histiocytosis
Abnormal circulating vitamin B12 concentration ORPHA:157991
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Low serum calcitriol ORPHA:2788
Familial Mediterranean Fever
Amyloidosis ORPHA:342
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Reduced blood folate concentration, Decreased circulating vitamin D con... OMIM:212750
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Low serum calcitriol, Hypophosphatemia, Hypoprotei... ORPHA:398063
Alkaptonuria
Amyloidosis ORPHA:56
Immunodeficiency 114, Folate-Responsive
Abnormal blood folate concentration, Increased circulating ferritin concentration, Hypertriglycer... OMIM:620603
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Hypophosphatemia, High serum calcitriol, Hypocalc... OMIM:277440
Microphthalmia/Coloboma 12
Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system OMIM:120200
Maxillonasal Dysplasia
Decreased circulating vitamin K concentration ORPHA:1248
Chylomicron Retention Disease
Abnormality of vitamin metabolism, Hypocholesterolemia ORPHA:71
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Abnormality of vitamin D metabolism, Diabetes mellitus, Decreased serum zinc ORPHA:541423
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Decreased circulating vitamin D concentration ORPHA:89937
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Hyperphosphatemia, High serum calcitriol, Calcinosis, Hypercalcemia OMIM:211900
Hyperprolinemia Type 2
Hyperprolinemia, Hyperalaninemia, Hyperglycinemia, Reduced circulating vitamin B6 circulating ORPHA:79101
Methylmalonic Aciduria, Cblb Type
Elevated circulating propionylcarnitine concentration, Abnormal circulating vitamin B12 concentra... OMIM:251110
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Hypocalcemia, Low serum calcitriol, Hypophosphate... ORPHA:289157
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Decreased circulating calcifediol concentration, Hypophosphatemia, Hypocalcemia OMIM:600081
Congenital Bile Acid Synthesis Defect Type 2
Decreased circulating vitamin E concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia,... ORPHA:79303
Infantile Nephropathic Cystinosis
Abnormality of vitamin D metabolism, Abnormality of thyroid physiology, Hypokalemia, Hypophosphat... ORPHA:411629
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis OMIM:134610
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Decreased circulating vitamin E concentration, Hyperchol... OMIM:277460
Marchiafava-Bignami Disease
Decreased circulating vitamin B1 concentration ORPHA:221074
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
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Abnormal circulating vitamin B12 concentration, Hyperglycinemia, Hyperammonemia, Methylmalonic ac... OMIM:251000
Muckle-Wells Syndrome
Optic atrophy, Renal amyloidosis ORPHA:575
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Muckle-Wells Syndrome
Renal amyloidosis OMIM:191900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of amino acid metabolism, Abnormal blood inorganic cation concentration, Increased to... ORPHA:309854
Methylmalonic Aciduria, Cbla Type
Abnormal circulating vitamin B12 concentration, Hyperglycinemia, Hyperammonemia, Decreased circul... OMIM:251100
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya... ORPHA:91495
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets, High serum calcitriol OMIM:300554
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Abnormal circulating vitamin B12 concentration ORPHA:544503
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormal circulating selenium concentration, Delayed puberty, Decreased serum zinc, Abnormality o... ORPHA:79408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Multiple Endocrine Neoplasia Type 2
Cutaneous lichen amyloidosis ORPHA:653
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Elevated circ... OMIM:248250
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Abnormality of vi... ORPHA:29073
Dent Disease 1
Hypophosphatemia, High serum calcitriol OMIM:300009
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormality of vitamin D metabolism, Hypophosphatemic rickets, Low serum ... ORPHA:289176
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Imerslund-Gräsbeck Syndrome
Abnormal blood 5-methyltetrahydrofolate level, Decreased circulating vitamin B12 concentration, M... ORPHA:35858
Transcobalamin Ii Deficiency
Abnormal blood folate concentration, Hyperhomocystinemia, Abnormal circulating vitamin B12 concen... OMIM:275350
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninemia, Abnormal circulating vitamin B12 concentration, Hypomethioninemia, Decreased ci... OMIM:277400
Pyruvate Dehydrogenase E2 Deficiency
Decreased circulating vitamin B1 concentration ORPHA:79244
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Decreased circulating vitamin D concentration, Hyperlipidemia, Hyperuricemia, Hypothyroidism, Del... ORPHA:79259
Bone Marrow Failure Syndrome 3
Decreased circulating vitamin E concentration, Decreased circulating vitamin D concentration OMIM:617052
Diamond-Blackfan Anemia 7
Decreased circulating vitamin D concentration OMIM:612562
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Remnants of the hyaloid vascular system OMIM:221900
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Dent Disease
Renal hypophosphatemia, High serum calcitriol, Elevated circulating creatine kinase concentration ORPHA:1652
Epidermal Nevus Syndrome
Decreased circulating vitamin D concentration ORPHA:35125
Attrv122I Amyloidosis
Cardiac amyloidosis ORPHA:85451
Eiken Syndrome
Decreased circulating vitamin D concentration OMIM:600002
Pearson Syndrome
Hypomagnesemia, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyp... ORPHA:699
Atelis Syndrome 2
Remnants of the hyaloid vascular system OMIM:620185
Chondrodysplasia Punctata, Autosomal Dominant
Decreased circulating vitamin K concentration OMIM:118650
Mucopolysaccharidosis Type 3
Decreased circulating vitamin D concentration ORPHA:581
Congenital Erythropoietic Porphyria
Abnormal circulating porphyrin concentration, Reduced haptoglobin level, Unconjugated hyperbiliru... ORPHA:79277
Pierson Syndrome
Retinal hemorrhage, Retinal detachment, Remnants of the hyaloid vascular system OMIM:609049
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Decreased circulating iron concentration, Increased circulating prolactin con... ORPHA:438213
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system ORPHA:637
Autoimmune Lymphoproliferative Syndrome
Thyroid adenoma, Thyroid carcinoma, Thyroiditis, Abnormal circulating vitamin B12 concentration ORPHA:3261
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system OMIM:300166
Autosomal Dominant Cutis Laxa
Decreased circulating vitamin D concentration ORPHA:90348
Lysinuric Protein Intolerance
Renal amyloidosis, Hepatic amyloidosis ORPHA:470
Norrie Disease
Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:649
Neuroocular Syndrome 1
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
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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