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Gene: Ttll4 MGI:1914784

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Gene Summary

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

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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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased bone mineral content Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 5.42×10-06
increased circulating alanine transaminase level Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 6.11×10-06
abnormal retina morphology Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 4.51×10-06
increased circulating LDL cholesterol level Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 3.24×10-07
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 8.60×10-05

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
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:79506
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... OMIM:144250
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Morbid Obesity And Spermatogenic Failure
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... OMIM:615703
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... OMIM:619868
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,... OMIM:207750
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616828
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Growth Hormone Insensitivity Syndrome
Failure to thrive, Truncal obesity, Hypercholesterolemia ORPHA:181393
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypercholesterolemia OMIM:616267
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia ORPHA:75234
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hyperostosis frontalis interna, Hypercholesterolemia, Obesity, Osteoporosis ORPHA:77296
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:612526
Citrullinemia, Type Ii, Neonatal-Onset
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Fail... OMIM:605814
Congenital Analbuminemia
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... ORPHA:86816
Hyperlipoproteinemia, Type I
Lipemia retinalis, Lactescent serum, Hyperlipidemia, Hypercholesterolemia, Increased circulating ... OMIM:238600
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Increased LDL cholesterol concentration, Truncal obesity, Hypertriglyceride... OMIM:615812
Temple Syndrome
Small for gestational age, Obesity, Truncal obesity, Overweight, Hypercholesterolemia, Hypertrigl... OMIM:616222
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Galactokinase Deficiency
Hypergalactosemia, Increased level of galactitol in plasma, Small for gestational age, Failure to... ORPHA:79237
Smith-Magenis Syndrome
Retinal detachment, Increased body weight, Hypertriglyceridemia, Hypercholesterolemia OMIM:182290
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... ORPHA:247598
Laron Syndrome
Truncal obesity, Hypercholesterolemia ORPHA:633
Congenital Generalized Lipodystrophy
Increased C-peptide level, Bone cyst, Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia ORPHA:528
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... ORPHA:567548
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Hypercholesterolemia ORPHA:209902
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... ORPHA:247585
Cog4-Cdg
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Obesity, Truncal obesity, Hypercholesterolemia ORPHA:96184
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... OMIM:619662
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Dysbetalipoproteinemia
Hypercholesterolemia, Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol... ORPHA:412
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia OMIM:277460
Smith-Magenis Syndrome
Obesity, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Failure to thrive in inf... ORPHA:819
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet), Osteolyti... ORPHA:2457
Bardet-Biedl Syndrome 20
Rod-cone dystrophy, Retinal vascular tortuosity, Obesity, Hypercholesterolemia, Papilledema OMIM:619471
Lysosomal Acid Lipase Deficiency
Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:278000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, O... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... ORPHA:264580
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... OMIM:210250
Megalocornea-Mental Retardation Syndrome
Osteopenia, Hypercholesterolemia OMIM:249310
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia ORPHA:2479
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kina... ORPHA:370
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypercholesterolemia, Acroosteolysis of distal phalanges (feet), Calcinosis, Osteopenia, Hyperlip... OMIM:248370
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Lysinuric Protein Intolerance
Hyperalaninemia, Hyperglycinemia, Intraalveolar phospholipid accumulation, Hyperglutaminemia, Ste... ORPHA:470
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Failu... ORPHA:90674
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Gaisböck Syndrome
Hyperuricemia, Increased circulating renin level, Obesity, Overweight, Hypercholesterolemia, Hype... ORPHA:90041
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Lysosomal Acid Lipase Deficiency
Weight loss, Cachexia, Hyperkalemia, Steatorrhea, Failure to thrive, Xanthelasma, Hypercholestero... ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperuricemia, Failure to thrive, Xanthelasma, Osteopenia, Hyperlipidemia, Hypercholesterolemia, ... ORPHA:79259
Lowe Oculocerebrorenal Syndrome
Elevated maternal serum alpha-fetoprotein, Osteomalacia, Elevated circulating creatine kinase con... OMIM:309000
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:151660
Immunodeficiency 47
Failure to thrive, Decreased circulating copper concentration, Hypercholesterolemia OMIM:300972
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Hypercholesterolemia ORPHA:363618
Alagille Syndrome 1
Failure to thrive, Chorioretinal atrophy, Hypercholesterolemia, Hypertriglyceridemia, Pigmentary ... OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Hypercholesterolemia, Hyperaldosteronism, Osteomalacia, Hypophosphatemia, Hypokalemia, Failure to... ORPHA:534
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Pigment... OMIM:606721
Homozygous Familial Hypercholesterolemia
Optic neuropathy, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Failure to thrive, Increased circulating ferritin concentration, Osteopenia, ... OMIM:619534
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 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
TTLL1 and TTLL4 polyglutamylases are required for the neurodegenerative phenotypes in pcd mice. PLoS genetics (April 2022) Ttll4tm1a(EUCOMM)Wtsi PMC9022812
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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