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Gene: Hltf MGI:1196437

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Gene Summary

Name:
helicase-like transcription factor
Synonyms:
Smarca3,  Snf2l3,  P113

Order Alleles

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 body length Hltfem1(IMPC)Bay HET Early adult 1.46×10-07
preweaning lethality, incomplete penetrance Hltfem1(IMPC)Bay HOM   Early adult 0.00

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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.

Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right eye

16 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Human diseases caused by Hltf 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 Hltf by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles, Senile plaques DECIPHER:48
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
3-Methylglutaconic Aciduria Type 1
Hypoglycemia ORPHA:67046
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles, Senile plaques OMIM:605055
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Alzheimer Disease 9, Susceptibility To
Neurofibrillary tangles, Hippocampal atrophy, Cerebral cortical atrophy, Senile plaques OMIM:608907
Glycogen Storage Disease Vi
Hypoglycemia OMIM:232700
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia ORPHA:293964
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy OMIM:619132
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia ORPHA:171706
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp... ORPHA:276608
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Diaminopentanuria
Neurodegeneration OMIM:222350
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemi... ORPHA:276580
Hyperinsulinemic Hypoglycemia, Familial, 8
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures OMIM:620211
Endocardial Fibroelastosis
Hypoglycemia ORPHA:2022
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia, Death in childhood OMIM:246900
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Brain atrophy OMIM:619048
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Hypoglycemia, Cerebral atrophy, Death in childhood, Neonatal death OMIM:245400
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276556
Mitochondrial Complex I Deficiency, Nuclear Type 19
Cerebellar atrophy, Hypoglycemia OMIM:618241
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Typ... ORPHA:276575
Pyridoxine-Dependent Epilepsy
Hypoglycemia, Brain atrophy ORPHA:3006
Hsd10 Mitochondrial Disease
Hypoglycemia, Cerebral cortical atrophy OMIM:300438
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia ORPHA:231140
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Cerebral cortical atrophy ORPHA:48431
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Diarrhea 13
Recurrent hypoglycemia OMIM:620357
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia, Cerebral cortical atrophy ORPHA:2158
Mehmo Syndrome
Hypoglycemia OMIM:300148
Propionic Acidemia
Hypoglycemia ORPHA:35
Mitochondrial Pyruvate Carrier Deficiency
Hypoglycemia OMIM:614741
3-Methylglutaconic Aciduria Type 4
Hypoglycemia ORPHA:67048
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia ORPHA:231147
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Hemochromatosis, Neonatal
Hypoglycemia, Hepatocellular necrosis OMIM:231100
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Hypoglycemia OMIM:619386
Riboflavin Deficiency
Hypoglycemia OMIM:615026
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Hypoglycemia, Brain atrophy OMIM:614739
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Fasting hypoglycemia, Hypoglycemia, Cerebral atrophy OMIM:261680
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypoglycemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Hypoglycemia OMIM:618839
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Hypoglycemia, Cerebral atrophy, Frontotemporal cerebral atrophy, Neurod... ORPHA:391428
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:26792
Glycogen Storage Disease Iii
Hypoglycemia OMIM:232400
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Global brain atrophy ORPHA:79096
Combined Malonic And Methylmalonic Acidemia
Hypoglycemia ORPHA:289504
2P21 Microdeletion Syndrome
Hypoglycemia ORPHA:163693
Cog8-Cdg
Cerebellar atrophy, Hypoglycemia, Atrophy/Degeneration affecting the brainstem ORPHA:95428
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia OMIM:620137
Combined Oxidative Phosphorylation Deficiency 34
Hypoglycemia OMIM:617872
Combined Oxidative Phosphorylation Deficiency 47
Hypoglycemia OMIM:618958
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur... ORPHA:97279
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Hypoglycemia, Cerebral atrophy OMIM:617710
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoglycemia, Brain atrophy OMIM:620275
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Glycogen Storage Disease Ixb
Hypoglycemia OMIM:261750
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia OMIM:615160
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis,... ORPHA:552
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia ORPHA:369
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hepatic necrosis, Hypoketotic hypoglycemia OMIM:231530
Pyruvate Carboxylase Deficiency
Hypoglycemia OMIM:266150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia OMIM:618120
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Death in infancy, Hypoglycemia OMIM:620300
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Hypoglycemia, Death in adolescence, Death in childhood, Neonatal death, Neonata... OMIM:619055
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Hypoglycemia, Death in childhood OMIM:611126
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypoglycemia OMIM:201910
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Fasting hypoglycemia, Glycosuria, Hyperinsulinemic hypoglycemia, Neonatal hypog... ORPHA:263455
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Hepatic periportal necrosis, Hypoglycemia, Glycosuria OMIM:231680
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Glycogen Storage Disease Ixc
Hypoglycemia, Fasting hypoglycemia OMIM:613027
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy OMIM:617672
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Neonatal hypoglycemia OMIM:619046
Glycogen Storage Disease Ixd
Hypoglycemia OMIM:300559
Pyruvate Dehydrogenase E3 Deficiency
Hypoglycemia ORPHA:2394
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia OMIM:614702
D-Glyceric Aciduria
Patent ductus arteriosus, Hypoglycemia, Cerebral cortical atrophy OMIM:220120
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration OMIM:615889
Temple Syndrome
Recurrent hypoglycemia, Type II diabetes mellitus ORPHA:254516
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Death in childhood OMIM:246450
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Insulin resistance, Neurodegeneration, Brain atroph... OMIM:214150
Laron Syndrome
Hypoglycemia ORPHA:633
Propionic Acidemia
Hypoglycemia, Cerebral atrophy OMIM:606054
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem OMIM:612319
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Hypoglycemia OMIM:617049
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Hypoglycemia, Brain atrophy OMIM:619355
Timothy Syndrome
Patent ductus arteriosus, Hypoglycemia OMIM:601005
Blue Diaper Syndrome
Recurrent hypoglycemia, Increased proinsulin:insulin ratio ORPHA:94086
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia ORPHA:391408
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Death in infancy, Hepatocellular necrosis OMIM:201475
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Classic Galactosemia
Hypoglycemia ORPHA:79239
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Alzheimer Disease 4
Neurofibrillary tangles, Senile plaques OMIM:606889
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia OMIM:618838
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia ORPHA:42
Pituitary Stalk Interruption Syndrome
Death in infancy, Hypoglycemia ORPHA:95496
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Recurrent hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia ORPHA:79644
Carnitine Palmitoyl Transferase 1A Deficiency
Hypoglycemia ORPHA:156
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Hyperinsulinemic hypoglycemia,... ORPHA:71212
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia ORPHA:73272
Acth Deficiency, Isolated
Fasting hypoglycemia OMIM:201400
Galactokinase Deficiency
Hyperinsulinemia, Hypoglycemia ORPHA:79237
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Glucocorticoid Resistance, Generalized
Hypoglycemia OMIM:615962
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures ORPHA:199296
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia, Cerebral cortical atrophy OMIM:616260
Cerebral Visual Impairment
Central nervous system degeneration, Neurodegeneration, Neonatal hypoglycemia ORPHA:447788
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Neurofibrillary tangles, Temporal cortical atrophy, Senile plaques ORPHA:100070
Fructose-1,6-Bisphosphatase Deficiency
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia ORPHA:348
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Hypoglycemia, Glycosuria OMIM:616026
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hypoglycemia OMIM:201450
Shashi-Pena Syndrome
Patent ductus arteriosus, Hypoglycemia OMIM:617190
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Recurrent hypoglycemia OMIM:212140
Post-Traumatic Pituitary Deficiency
Hypoglycemia ORPHA:95619
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Neonatal hypoglycemia OMIM:212138
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Hypoglycemia OMIM:615453
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
Donohue Syndrome
Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia OMIM:246200
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebral atrophy OMIM:256600
Combined Oxidative Phosphorylation Defect Type 39
Corpus callosum atrophy, Neonatal hypoglycemia, Cerebral atrophy, Atrophy/Degeneration affecting ... ORPHA:565624
Insulin-Resistance Syndrome Type B
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... ORPHA:2298
Smith-Kingsmore Syndrome
Hypoglycemia OMIM:616638
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Maple Syrup Urine Disease
Hypoglycemia OMIM:248600
Pituitary Hormone Deficiency, Combined, 6
Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Alzheimer Disease 3
Neurofibrillary tangles, Cerebral cortical atrophy OMIM:607822
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Neurodegeneration, Cerebral atrophy, Hypoglycemia OMIM:616878
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Congenital Disorder Of Glycosylation, Type Iie
Cerebellar atrophy, Death in infancy, Hypoglycemia, Cerebral atrophy OMIM:608779
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia OMIM:606407
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Neuronal loss in central nervous system, Cerebral cortical atrophy OMIM:607485
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Cerebral atrophy, Hepatocellular necrosis OMIM:251880
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus, Hypoglycemia OMIM:607143
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Death in infancy, Hypoglycemia OMIM:608836
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Hypoglycemic seizures, Hypoglycemia, Global brain atrophy ORPHA:480864
Fanconi-Bickel Syndrome
Diabetes mellitus, Impaired glucose tolerance, Fasting hypoglycemia, Glycosuria, Postprandial hyp... ORPHA:2088
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypoglycemia OMIM:210200
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia OMIM:301032
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration OMIM:245200
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic periportal necrosis, Hypoglycemia ORPHA:26791
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia OMIM:251000
Reni Syndrome
Hypoglycemia OMIM:617575
Parkinson Disease 23, Autosomal Recessive Early-Onset
Neurofibrillary tangles, Cerebral cortical atrophy OMIM:616840
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia ORPHA:397590
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Fructose-1,6-Bisphosphatase Deficiency
Hypoglycemia OMIM:229700
3-Methylglutaconic Aciduria Type 7
Cerebellar atrophy, Neonatal hypoglycemia, Cerebral atrophy ORPHA:445038
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:300894
Pancreatic And Cerebellar Agenesis
Death in infancy, Hyperglycemia, Diabetes mellitus, Hypoglycemia OMIM:609069
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Silver-Russell Syndrome 1
Fasting hypoglycemia OMIM:180860
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration OMIM:620210
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurofibrillary tangles, Neurodegeneration, Cerebral atrophy OMIM:610217
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy OMIM:615157
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Hypoglycemia OMIM:618329
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Carnitine Palmitoyltransferase I Deficiency
Hypoketotic hypoglycemia OMIM:255120
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus, Hypoglycemia OMIM:618005
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cerebellar atrophy, Hypoglycemia, Cerebral atrophy, Recurrent hypoglycemia, Neonatal death, Hyper... OMIM:124000
Mirage Syndrome
Patent ductus arteriosus, Hypoglycemia OMIM:617053
Glutaric Acidemia I
Hypoglycemia OMIM:231670
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Patent ductus arteriosus, Cerebral atrophy, Neonatal death, Neonatal hypoglycemia OMIM:617248
Spongiform Encephalopathy With Neuropsychiatric Features
Neurofibrillary tangles OMIM:606688
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Beta-Ketothiolase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:134
Early-Onset Autosomal Dominant Alzheimer Disease
Neurofibrillary tangles, Cerebral cortical atrophy ORPHA:1020
Congenital Disorder Of Glycosylation, Type Im
Death in infancy, Hypoketotic hypoglycemia OMIM:610768
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Neonatal hypoglycemia, Cerebral atrophy OMIM:616271
Cholera
Miscarriage, Hypoglycemia ORPHA:173
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Cerebral cortical atrophy OMIM:616007
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia ORPHA:457279
Sotos Syndrome
Glucose intolerance, Patent ductus arteriosus, Neonatal hypoglycemia OMIM:117550
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Atrophy/Degeneration affecting the brainstem ORPHA:66634
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy ORPHA:478029
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Fasting hypoglycemia ORPHA:264580
Leigh Syndrome
Cerebellar atrophy, Hypoglycemia ORPHA:506
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neuronal loss in central nervous system, Neurodegeneration OMIM:616239
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent hypoglycemia, Ketotic hypoglycemia, Fasting hypoglycemia ORPHA:79240
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia ORPHA:457485
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Neonatal hypoglycemia, Cerebral atrophy ORPHA:572798
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia OMIM:620224
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:615491
Niemann-Pick Disease, Type C1
Neurofibrillary tangles, Neuronal loss in central nervous system OMIM:257220
Gerstmann-Straussler Disease
Cerebellar atrophy, Neurofibrillary tangles OMIM:137440
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Hypoglycemia, Cerebral atrophy ORPHA:17
Glycogen Storage Disease Ia
Hypoglycemia, Fasting hypoglycemia OMIM:232200
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hypoglycemia OMIM:210210
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy ORPHA:309246
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hypoketotic hypoglycemia ORPHA:228305
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Hypoglycemia, Hepatocellular necrosis OMIM:256810
Silver-Russell Syndrome
Insulin resistance, Recurrent hypoglycemia ORPHA:813
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia OMIM:617093
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hypoglycemia ORPHA:199299
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia OMIM:614921
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Atrophy of the spinal cord, Hypoglycemia, Cerebral atrophy ORPHA:79282
Supranuclear Palsy, Progressive, 1
Neurofibrillary tangles, Cerebral atrophy, Granulovacuolar degeneration, Senile plaques, Neuronal... OMIM:601104
Niemann-Pick Disease, Type C2
Neurofibrillary tangles, Death in infancy, Death in childhood OMIM:607625
Isolated Complex I Deficiency
Diabetes mellitus, Hypoglycemia ORPHA:2609
Glutaryl-Coa Dehydrogenase Deficiency
Pallidal degeneration, Fasting hypoglycemia ORPHA:25
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Death in infancy, Hypoglycemia OMIM:252010
Oculodentodigital Dysplasia
Hypoglycemia ORPHA:2710
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Hypoglycemia OMIM:617156
Mitochondrial Trifunctional Protein Deficiency 1
Hypoketotic hypoglycemia OMIM:609015
X-Linked Dominant Chondrodysplasia Punctata
Neonatal hypoglycemia ORPHA:35173
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoglycemia OMIM:615751
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia ORPHA:99901
Immunodeficiency 59 And Hypoglycemia
Hypoglycemia OMIM:233600
Pituitary Apoplexy
Hypoglycemia ORPHA:95613
Orthostatic Hypotension 1
Neonatal hypoglycemia OMIM:223360
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Fasting hypoglycemia, Glycosuria OMIM:227810
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures ORPHA:361
Bannayan-Riley-Ruvalcaba Syndrome
Hypoglycemia ORPHA:109
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hypoketotic hypoglycemia ORPHA:157
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Recurrent hypoglycemia ORPHA:20
Alg12-Cdg
Patent ductus arteriosus, Recurrent hypoglycemia ORPHA:79324
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypoglycemia, Neonatal hypoglycemia OMIM:619418
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Pyruvate Carboxylase Deficiency
Hyperglycemia, Hypoglycemia ORPHA:3008
Mitochondrial Trifunctional Protein Deficiency
Hypoketotic hypoglycemia ORPHA:746
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoketotic hypoglycemia ORPHA:26793
Holoprosencephaly
Diabetes mellitus, Hypoglycemia ORPHA:2162
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Neurodegeneration, Cerebral atrophy, Death in childhood OMIM:618321
Kabuki Syndrome 2
Neonatal hypoglycemia OMIM:300867
Sheehan Syndrome
Hypoglycemia ORPHA:91355
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia ORPHA:90790
Shigellosis
Hypoglycemia ORPHA:810
Supranuclear Palsy, Progressive, 2
Neurofibrillary tangles, Neuronal loss in central nervous system, Granulovacuolar degeneration OMIM:609454
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hypoketotic hypoglycemia ORPHA:228308
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy OMIM:272750
Deeah Syndrome
Death in infancy, Death in adolescence, Neonatal hypoglycemia, Death in childhood OMIM:619004
Adult-Onset Dystonia-Parkinsonism
Frontotemporal cerebral atrophy, Neurofibrillary tangles, Generalized cerebral atrophy/hypoplasia ORPHA:199351
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia OMIM:301066
Glycogen Storage Disease Ib
Hypoglycemia OMIM:232220
Adrenoleukodystrophy
Neurodegeneration OMIM:300100
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia ORPHA:90791
Multiple Endocrine Neoplasia, Type I
Hypoglycemia OMIM:131100
Acute Adrenal Insufficiency
Hypoglycemia ORPHA:95409
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Fasting hypoglycemia ORPHA:96182
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemia, Hypoglycemic seizures ORPHA:79259
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Neurofibrillary tangles OMIM:117300
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration OMIM:606159
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoglycemia, Cerebral atrophy OMIM:613658
Simpson-Golabi-Behmel Syndrome
Death in infancy, Hypoglycemia ORPHA:373
Perlman Syndrome
Hypoglycemia OMIM:267000
Histiocytoid Cardiomyopathy
Hypoglycemia ORPHA:137675
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration OMIM:615919
Menkes Disease
Hypoglycemia ORPHA:565
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Addison Disease
Type I diabetes mellitus, Hypoglycemia ORPHA:85138
Leprechaunism
Insulin resistance, Hyperinsulinemia, Recurrent infantile hypoglycemia, Fasting hypoglycemia, Pos... ORPHA:508
Acute Liver Failure
Hepatic periportal necrosis, Hypoglycemia, Hepatic necrosis, Hepatocellular necrosis ORPHA:90062
Hereditary Fructose Intolerance
Reactive hypoglycemia ORPHA:469
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Neurodegeneration OMIM:618476
Glycerol Kinase Deficiency
Hypoglycemia OMIM:307030
Generalized Glucocorticoid Resistance Syndrome
Hypoglycemia ORPHA:786
Tyrosinemia, Type I
Hypoglycemia OMIM:276700
Costello Syndrome
Hypoglycemia, Cerebral atrophy OMIM:218040
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia ORPHA:226307
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Hyperglycemia, Hypoglycemia OMIM:220111
Glycogen Storage Disease Ic
Hypoglycemia OMIM:232240
Mucopolysaccharidosis, Type Ii
Neurodegeneration OMIM:309900
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent hypoglycemia ORPHA:293978
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Cerebral cortical atrophy, Neonatal hypoglycemia ORPHA:457359
Fructose Intolerance, Hereditary
Hypoglycemia, Glycosuria OMIM:229600
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Glycosuria ORPHA:3337
Hurler Syndrome
Neurodegeneration OMIM:607014
Mucopolysaccharidosis, Type Vii
Neurodegeneration OMIM:253220
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Neurodegeneration OMIM:614298
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia ORPHA:289548
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia OMIM:261740
Beckwith-Wiedemann Syndrome
Hypoglycemia, Neonatal hypoglycemia ORPHA:116
Marburg Hemorrhagic Fever
Hypoglycemia ORPHA:99826
Chediak-Higashi Syndrome
Neurodegeneration OMIM:214500
Neurooculorenal Syndrome
Recurrent hypoglycemia OMIM:620305
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration OMIM:146500
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Neonatal hypoglycemia ORPHA:90794
Non-Acquired Panhypopituitarism
Hypoglycemia ORPHA:90695
Holoprosencephaly 1
Hypoglycemia OMIM:236100
Nijmegen Breakage Syndrome
Neurodegeneration OMIM:251260
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypoglycemia OMIM:201750
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia ORPHA:95494
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia OMIM:130650
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurodegeneration OMIM:619475
Neurodegeneration With Brain Iron Accumulation 1
Cerebral degeneration, Neurodegeneration, Global brain atrophy OMIM:234200
Sotos Syndrome
Patent ductus arteriosus, Neonatal hypoglycemia, Cerebral atrophy ORPHA:821
Primrose Syndrome
Glucose intolerance, Diabetes mellitus, Neurodegeneration OMIM:259050

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 Hltf

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 Hltf.

No publications found that use IMPC mice or data for Hltf.

Order Mouse and ES Cells

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
Hltftm44497(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hltftm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Hltftm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hltfem1(IMPC)Bay Exon Deletion Mice

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