Gene Summary

tubulin tyrosine ligase-like family, member 4

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 circulating HDL cholesterol level Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 8.60×10-05
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
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
abnormal retina morphology Ttll4tm1a(EUCOMM)Wtsi HOM Early adult 4.51×10-06

Download data as:  TSV  XLS

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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 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
Matching phenotypes Source
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hyperc... OMIM:615703
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Increased serum bile acid concentr... OMIM:619868
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Lipemia retinalis, Hypercholesterolemia, Decreas... OMIM:207750
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... OMIM:616828
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia OMIM:306000
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Morgagni-Stewart-Morel Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoporosis, Hyperostosis frontalis interna ORPHA:77296
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia OMIM:612526
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... OMIM:605814
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Small for gestat... ORPHA:86816
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity, Hypercholesterolemia ORPHA:254531
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Retinal degeneration, Decreased LDL... OMIM:615558
Temple Syndrome
Obesity, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Overweight, Small for gesta... OMIM:616222
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes... OMIM:615812
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Lipemia retina... OMIM:238600
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Galactokinase Deficiency
Failure to thrive, Hypergalactosemia, Hypercholesterolemia, Increased level of galactitol in plas... ORPHA:79237
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Smith-Magenis Syndrome
Increased body weight, Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Laron Syndrome
Hypercholesterolemia, Truncal obesity ORPHA:633
Congenital Generalized Lipodystrophy
Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Bone cyst, Increased C-peptide level ORPHA:528
Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Citrullinemia Type Ii
Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem... ORPHA:247585
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Obesity, Hypertriglyceridemia ORPHA:209902
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Obesity, Hypercholesterolemia, Small for gestational age, Truncal obesity ORPHA:96184
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticoste... ORPHA:556037
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Xanthelasma, Increased LDL cholesterol concentration, Obesity, Hypertriglyceridemia, Hypercholest... ORPHA:412
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia ORPHA:401923
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity, Retinal detachment, Hypercholesterolemia, Hypertriglycerid... ORPHA:819
Cholestasis, Progressive Familial Intrahepatic, 8
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... OMIM:619662
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Obesity, Papilledema, Hypercholesterolemia, Rod-cone dystrophy OMIM:619471
Cholesteryl Ester Storage Disease
Failure to thrive, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholestero... OMIM:278000
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet), Hyperchol... ORPHA:2457
Neuhauser Syndrome
Retinal detachment, Osteopenia, Hypercholesterolemia OMIM:249310
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hypercholesterolemia, ... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Elevated circulating creatine kinase concentration, Increased body weight, Hyp... ORPHA:264580
Sitosterolemia 1
Hyperapobetalipoproteinemia, Xanthelasma, Reduced haptoglobin level, Elevated circulating sitoste... OMIM:210250
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Hypercholesterolemia ORPHA:2479
Lysinuric Protein Intolerance
Osteopenia, Intraalveolar phospholipid accumulation, Failure to thrive, Increased circulating fer... ORPHA:470
Low Phospholipid-Associated Cholelithiasis
Obesity, Overweight, Hypercholesterolemia ORPHA:69663
Gaisböck Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Overweight,... ORPHA:90041
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Abnormal circulating thyroglobulin concentration,... ORPHA:90674
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Hypercholesterolemia, Calc... OMIM:248370
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Prader-Willi Syndrome
Osteopenia, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infa... OMIM:176270
Primary Biliary Cholangitis
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Hypercholesterolemia, Ste... ORPHA:186
Congenital Disorder Of Glycosylation, Type Iiaa
Hypercholesterolemia, Hyperammonemia OMIM:620454
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Lysosomal Acid Lipase Deficiency
Failure to thrive, Xanthelasma, Hyponatremia, Cachexia, Weight loss, Hypercholesterolemia, Hypert... ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Failure to thrive, Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, ... ORPHA:79259
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:151660
Immunodeficiency 47
Decreased circulating copper concentration, Hypercholesterolemia, Failure to thrive OMIM:300972
Lowe Oculocerebrorenal Syndrome
Elevated amniotic fluid alpha-fetoprotein, Rickets, Failure to thrive, Osteomalacia, Elevated cir... OMIM:309000
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Alagille Syndrome 1
Pigmentary retinopathy, Failure to thrive, Chorioretinal atrophy, Hypercholesterolemia, Hypertrig... OMIM:118450
Oculocerebrorenal Syndrome Of Lowe
Failure to thrive, Osteomalacia, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia,... ORPHA:534
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Small for ... OMIM:606721
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Optic neuropathy ORPHA:391665
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Failure to thrive, Increased circulating ferritin concentration, Ele... OMIM:619534
Steinert Myotonic Dystrophy
Hypercholesterolemia ORPHA:273


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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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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