Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases predicted to be associated to Hspa1b by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Primary Erythromelalgia | Hypothermia | ORPHA:90026 | |
Riboflavin Deficiency | Hypothermia | OMIM:615026 | |
2-Methylbutyryl-Coa Dehydrogenase Deficiency | Hypothermia | OMIM:610006 | |
Developmental And Epileptic Encephalopathy 78 | Hypothermia | OMIM:618557 | |
Spontaneous Periodic Hypothermia | Hypothermia | ORPHA:29822 | |
Idiopathic Congenital Hypothyroidism | Hypothermia | ORPHA:95717 | |
Coenzyme Q10 Deficiency, Primary, 5 | Hypothermia | OMIM:614654 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 | Hypothermia | OMIM:616501 | |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome | Hypothermia | ORPHA:168593 | |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) | Hypothermia | OMIM:245400 | |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal | Hypothermia | OMIM:614498 | |
Sepsis In Premature Infants | Temperature instability, Fever, Hypothermia, Cyanosis, Increased circulating interleukin 6 concen... | ORPHA:90051 | |
Meningococcal Meningitis | Fever, Hypothermia | ORPHA:33475 | |
Menkes Disease | Hypothermia | OMIM:309400 | |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs | Hypothermia | ORPHA:226313 | |
Timothy Syndrome | Hypothermia | OMIM:601005 | |
Familial Thyroid Dyshormonogenesis | Hypothermia | ORPHA:95716 | |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities | Fever, Abnormality of temperature regulation, Hypothermia | OMIM:618493 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Hypothermia | OMIM:608800 | |
N-Acetylglutamate Synthase Deficiency | Hypothermia | OMIM:237310 | |
Carnitine-Acylcarnitine Translocase Deficiency | Hypothermia, Cyanosis | ORPHA:159 | |
Congenital Enterovirus Infection | Fever, Hypothermia | ORPHA:292 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 | Hypothermia | OMIM:618775 | |
Genetic Transient Congenital Hypothyroidism | Hypothermia | ORPHA:226316 | |
Adult Acute Respiratory Distress Syndrome | Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor secretion, A... | ORPHA:70578 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Hypothermia | ORPHA:26793 | |
3-Hydroxy-3-Methylglutaric Aciduria | Fever, Hypothermia | ORPHA:20 | |
Combined Oxidative Phosphorylation Deficiency 37 | Hypothermia | OMIM:618329 | |
Hypothyroidism Due To Tsh Receptor Mutations | Hypothermia | ORPHA:90673 | |
Ethylene Glycol Poisoning | Hypothermia, Cyanosis | ORPHA:31826 | |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) | Hypothermia | OMIM:251880 | |
Dopamine Beta-Hydroxylase Deficiency | Hypothermia | ORPHA:230 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Intermittent hypothermia, Temperature instability | OMIM:608643 | |
Tbck-Related Intellectual Disability Syndrome | Hypothermia | ORPHA:488632 | |
Car T Cell Therapy-Associated Cytokine Release Syndrome | Abnormal circulating interleukin concentration, Fever, Increased circulating interferon-gamma con... | ORPHA:542323 | |
Adult-Onset Autosomal Dominant Leukodystrophy | Temperature instability, Hypothermia | ORPHA:99027 | |
Orthostatic Hypotension 1 | Intermittent hypothermia | OMIM:223360 | |
Alexander Disease | Hypothermia | ORPHA:58 | |
Neuroleptic Malignant Syndrome | Fever, Hypothermia | ORPHA:94093 | |
Mitochondrial Dna-Associated Leigh Syndrome | Fever, Hypothermia | ORPHA:255210 | |
Isolated Thyroid-Stimulating Hormone Deficiency | Hypothermia | ORPHA:90674 | |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria | Hypothermia | ORPHA:17 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Hypothermia | ORPHA:79282 | |
Macrophage Activation Syndrome | Abnormal circulating interleukin concentration, Fever, Abnormality of tumor necrosis factor secre... | ORPHA:158061 | |
Menkes Disease | Hypothermia | ORPHA:565 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Fever, Hypothermia, Cyanosis | ORPHA:293987 | |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function | Hypothermia | ORPHA:226307 | |
Marburg Hemorrhagic Fever | Fever, Hypothermia, Increased circulating antibody level | ORPHA:99826 | |
Occipital Horn Syndrome | Hypothermia | ORPHA:198 | |
Hypothyroidism, Congenital, Nongoitrous, 2 | Hypothermia | OMIM:218700 | |
Hereditary Sensory And Autonomic Neuropathy Type 4 | Unexplained fevers, Hypothermia, Recurrent fever | ORPHA:642 | |
Sarcoidosis | Fever, Hypothermia | ORPHA:797 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Hypothermia | ORPHA:438213 | |
Aregenerative Anemia | Abnormal circulating interleukin concentration, Fever | ORPHA:101096 |
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 Hspa1b.
There are 1 publication which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
Knockout mice with pituitary malformations help identify human cases of hypopituitarism. | Genome medicine (May 2024) | Tg(RARE-Hspa1b/lacZ)12Jrt | PMC11140907 |
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