Gene Summary

Name:
tubulin tyrosine ligase-like family, member 4
Synonyms:
4632407P03Rik

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 circulating LDL cholesterol level Ttll4tm1a(EUCOMM)Wtsi HOM   Early adult 2.01×10-08
abnormal retina morphology Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 4.51×10-06
increased circulating LDL cholesterol level Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 1.39×10-07
decreased lean body mass Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 8.02×10-05
increased circulating HDL cholesterol level Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 1.99×10-05
increased circulating alanine transaminase level Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 1.29×10-08
increased bone mineral content Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 5.42×10-06
increased circulating total protein level Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 5.41×10-05
increased circulating serum albumin level Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 9.10×10-06
increased circulating aspartate transaminase level Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 9.01×10-05

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 Ttll4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ttll4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Chylomicron Retention Disease
Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decrea... OMIM:246700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
Glycogen Storage Disease Vi
Hypercholesterolemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Osteoporosis, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Gaisböck Syndrome
Hyperproteinemia, Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Overweight,... ORPHA:90041
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma ORPHA:1116
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, Hypoalbuminemia... ORPHA:86816
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia OMIM:600351
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Oste... ORPHA:29073
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia ORPHA:158048
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Retinal dystrophy, Failure to thrive, Osteoporosis, Rod-cone dystrophy, Stea... OMIM:266510
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Alg6-Cdg
Retinal degeneration, Failure to thrive, Rod-cone dystrophy, Hypoalbuminemia, Decreased LDL chole... ORPHA:79320
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprote... OMIM:207750
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol... OMIM:267700
Refractory Celiac Disease
Hypoproteinemia, Hypoalbuminemia, Weight loss, Osteoporosis, Hypophosphatemia, Hypomagnesemia, Hy... ORPHA:398063
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia ORPHA:2494
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Elevated circulating creatine kinase concentration, Optic atrophy, Retinal dysplasia OMIM:613154
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Leptospirosis
Hyperproteinemia, Chorioretinitis, Optic neuritis, Papilledema, Macular cotton wool spot, Retinal... ORPHA:509
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Osteopenia OMIM:610539
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Failure to thrive OMIM:616834
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Truncal obesity, Failure to thrive ORPHA:181393
Omenn Syndrome
Failure to thrive, Hypoproteinemia OMIM:603554
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Increased circulating ferritin concentration, Elevated circulating C-reactive ... OMIM:616050
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia OMIM:226300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Failure to thrive, Increased total bilirubin, Increased circulatin... OMIM:603553
Temple Syndrome
Small for gestational age, Truncal obesity, Hypercholesterolemia, Hypertriglyceridemia, Overweight OMIM:616222
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy OMIM:606721
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase concentration, I... ORPHA:26793
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Retinal h... ORPHA:86839
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Dengue Fever
Hypoproteinemia ORPHA:99828
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Weight loss, Hypomagnesemia, Hypocalcemia ORPHA:90362
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperostosis frontalis interna, Obesity ORPHA:77296
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... ORPHA:247598
Immunodeficiency 27A
Weight loss, Hypoalbuminemia OMIM:209950
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Eosinophilic Gastroenteritis
Weight loss, Elevated circulating C-reactive protein concentration, Steatorrhea, Hypoalbuminemia ORPHA:2070
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Hypoalbuminemia OMIM:608104
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hypocholesterolemia, Failure to thrive, Hyperbilirubinemia, Steatorrhea OMIM:607765
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Obesity ORPHA:254531
Leishmaniasis
Weight loss, Hypoalbuminemia ORPHA:507
Squalene Synthase Deficiency
Failure to thrive in infancy, Hypocholesterolemia, Optic nerve hypoplasia, Increased circulating ... OMIM:618156
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Abdominal obesity, Truncal obesity OMIM:615812
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Elevated circulating creatine kinase concentration, Hypocholesterolemia, Rod-cone ... ORPHA:96180
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lipemia retinalis, Lactescent serum, Hypercholesterolemia, Increased circulating ... OMIM:238600
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Failure to thrive, Abnor... ORPHA:88618
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Chylomicron Retention Disease
Hypocholesterolemia, Steatorrhea, Retinopathy, Failure to thrive ORPHA:71
Galactokinase Deficiency
Hypergalactosemia, Small for gestational age, Failure to thrive, Hypercholesterolemia, Increased ... ORPHA:79237
Johanson-Blizzard Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2315
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Failure to thrive, Rod-cone dystrophy, Osteopenia, Hypoalbuminemia OMIM:212065
Congenital Generalized Lipodystrophy
Bone cyst, Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Smith-Magenis Syndrome
Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Increased body weight OMIM:182290
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Hypocholesterolemia... ORPHA:14
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Failure to thrive, Hyperalaninemia, Hypoalbuminemia, Chorioretinal hyperpigmentation OMIM:618329
Pierson Syndrome
Hypoproteinemia OMIM:609049
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... OMIM:619662
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia, Obesity, Small for gestational age, Truncal obesity ORPHA:96184
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Aicardi-Goutieres Syndrome 9
Optic atrophy, Failure to thrive, Weight loss, Osteoporosis, Chorioretinal atrophy, Hypoalbuminemia OMIM:619487
Chédiak-Higashi Syndrome
Hypoproteinemia, Abnormality of retinal pigmentation, Hyponatremia, Increased circulating ferriti... ORPHA:167
Potocki-Lupski Syndrome
Hypocholesterolemia, Small for gestational age, Failure to thrive OMIM:610883
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hypoalbuminemia ORPHA:367
Juvenile Polyposis Syndrome
Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Wolcott-Rallison Syndrome
Hyponatremia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Decreased body weight ORPHA:1667
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,... OMIM:619055
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Overweight ORPHA:401923
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Amoebiasis Due To Entamoeba Histolytica
Weight loss, Hypoalbuminemia ORPHA:67
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Hypercholesterolemia, Hypertrig... ORPHA:79240
Sitosterolemia 1
Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia OMIM:210250
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Failure to thrive, Retinal detachment, Hypoalbuminemia, Abnorm... ORPHA:79324
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Chorioretinal hypopigmentation, Hypoalbuminemia OMIM:617303
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... ORPHA:412
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Hypercholesterolemia, Papilledema, Retinal vascular tortuosity, Obesity OMIM:619471
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Osteoporosis, Hypercholest... ORPHA:264580
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... ORPHA:90363
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Failure to thrive, Decreased serum iron, Abnormal circulating selenium conc... ORPHA:89842
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Failure to thri... OMIM:278000
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Failure to thrive,... ORPHA:90674
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Smith-Magenis Syndrome
Failure to thrive in infancy, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Obe... ORPHA:819
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, F... ORPHA:370
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Osteopenia OMIM:249310
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia OMIM:617729
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:36234
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia, Obesity, Overweight ORPHA:69663
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Al Amyloidosis
Increased circulating NT-proBNP concentration, Weight loss, Hypoalbuminemia ORPHA:85443
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Osteopenia ORPHA:2479
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Weight l... ORPHA:2298
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Hypoalbuminemia OMIM:235510
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Failure to thrive in infancy, Cachexia, Hypocalcemia, Hypomagnesemia,... ORPHA:37042
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Failure to thrive, Craniosynostosis, Hypoalbuminemia ORPHA:79396
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Small for gestational age, Failure to thri... OMIM:222470
Galloway-Mowat Syndrome 1
Optic atrophy, Small for gestational age, Hypoalbuminemia OMIM:251300
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Thin bony cortex, Small for gestational age, Ri... OMIM:613658
Lysinuric Protein Intolerance
Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... ORPHA:470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Hypoalbuminemia ORPHA:505248
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Hypokalemia, Weight loss, Hyperbilirubinemia, Hypoalbuminemia ORPHA:88673
Juvenile Polyposis Of Infancy
Cachexia, Hypoalbuminemia ORPHA:79076
Primary Sclerosing Cholangitis
Weight loss, Osteoporosis, Osteopenia, Hypoalbuminemia ORPHA:171
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Optic disc pallor, Failure to thrive OMIM:244450
Lowe Oculocerebrorenal Syndrome
Rickets, Failure to thrive, Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Oste... OMIM:309000
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia ORPHA:31150
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Weight loss, Hypercholesterolemia, Xanth... ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Failure to thrive, Osteoporosis, Hyperuricemia, Hypercholesterolemia, Osteopenia,... ORPHA:79259
Juvenile Polyposis Syndrome
Failure to thrive, Hypoproteinemia ORPHA:2929
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypokalemia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:99826
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration, Failure to thrive OMIM:300972
Alagille Syndrome 1
Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary ... OMIM:118450
Immunodeficiency 82 With Systemic Inflammation
Hypernatremia, Weight loss, Hypoalbuminemia, Osteomalacia, Elevated circulating C-reactive protei... OMIM:619381
Biliary, Renal, Neurologic, And Skeletal Syndrome
Failure to thrive, Elevated circulating creatinine concentration, Hyperbilirubinemia, Osteopenia,... OMIM:619534
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Failure to thrive, Chorioretinal dysplasia, Hypophosphatemia, Hypercho... ORPHA:534
Smith-Lemli-Opitz Syndrome
Hypocholesterolemia, Epiphyseal stippling, Failure to thrive, Elevated 7-dehydrocholesterol OMIM:270400
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Optic neuropathy, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Tropical Endomyocardial Fibrosis
Cachexia, Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Photoreceptor layer loss on macular OCT, Failure to thrive, Osteoporosis, Rod-cone dystrophy, Ost... ORPHA:79318
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273

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 Ttll4

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 Ttll4.

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) Ttll4tm1a(EUCOMM)Wtsi_H PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ttll4tm1a(EUCOMM)Wtsi/H PMC6459510

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MGI Allele Allele Type Produced
Ttll4tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ttll4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ttll4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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