Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
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 associated to Ndufaf6 by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Primary Fanconi Renotubular Syndrome | Weight loss | ORPHA:3337 | |
Fanconi Renotubular Syndrome 5 | OMIM:618913 | ||
Mitochondrial Complex I Deficiency, Nuclear Type 17 | OMIM:618239 |
The table below shows human diseases predicted to be associated to Ndufaf6 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Triglyceride Storage Disease, Type Ii | Obesity | OMIM:190430 | |
Maturity-Onset Diabetes Of The Young, Type 11 | Overweight, Obesity | OMIM:613375 | |
Obesity | Increased waist to hip ratio, Obesity | OMIM:601665 | |
Spermatogenic Failure, X-Linked, 1 | Obesity | OMIM:305700 | |
Abdominal Obesity-Metabolic Syndrome 1 | Abdominal obesity | OMIM:605552 | |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 | Abdominal obesity | OMIM:605572 | |
Prader-Willi Syndrome (Type 2) | Truncal obesity | DECIPHER:53 | |
Prader-Willi syndrome (Type 1) | Truncal obesity | DECIPHER:14 | |
Bardet-Biedl Syndrome 11 | Obesity | OMIM:615988 | |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome | Obesity | ORPHA:1078 | |
Dysplasia Epiphysealis Hemimelica | Overgrowth | OMIM:127800 | |
Bardet-Biedl Syndrome 14 | Obesity | OMIM:615991 | |
Bardet-Biedl Syndrome 13 | Obesity | OMIM:615990 | |
Summitt Syndrome | Obesity | OMIM:272350 | |
Intellectual Developmental Disorder, X-Linked 97 | Obesity | OMIM:300803 | |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome | Large for gestational age | ORPHA:356996 | |
Hyperinsulinemic Hypoglycemia, Familial, 1 | Large for gestational age | OMIM:256450 | |
Hyperinsulinemic Hypoglycemia, Familial, 2 | Large for gestational age | OMIM:601820 | |
Body Mass Index Quantitative Trait Locus 20 | Obesity, Tall stature | OMIM:618406 | |
Bardet-Biedl Syndrome 18 | Obesity | OMIM:615995 | |
Narcolepsy Type 1 | Obesity | ORPHA:2073 | |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy | Truncal obesity, Obesity, Large for gestational age | OMIM:240900 | |
Autism, Susceptibility To, X-Linked 6 | Obesity | OMIM:300872 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 | Obesity | OMIM:619058 | |
Cortisone Reductase Deficiency 2 | Obesity | OMIM:614662 | |
Prolactin Deficiency With Obesity And Enlarged Testes | Obesity | OMIM:264120 | |
Ankylosing Vertebral Hyperostosis With Tylosis | Obesity | ORPHA:2206 | |
Obesity And Hypopigmentation | Overgrowth, Obesity | OMIM:620195 | |
Bardet-Biedl Syndrome 10 | Obesity | OMIM:615987 | |
Coronary Artery Disease, Autosomal Dominant, 1 | Obesity | OMIM:608320 | |
Hernández-Aguirre Negrete Syndrome | Obesity | ORPHA:2139 | |
Microduplication Xp11.22P11.23 Syndrome | Obesity | ORPHA:217377 | |
Obesity-Hypoventilation Syndrome | Obesity | OMIM:257500 | |
Adiposis Dolorosa | Obesity | OMIM:103200 | |
Obesity Due To Melanocortin 4 Receptor Deficiency | Childhood-onset truncal obesity, Obesity | ORPHA:71529 | |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders | Overweight | OMIM:620065 | |
Polycystic Ovary Syndrome 1 | Obesity | OMIM:184700 | |
Hypothyroidism, Central, With Testicular Enlargement | Overweight | OMIM:300888 | |
Bardet-Biedl Syndrome 22 | Obesity, Large for gestational age | OMIM:617119 | |
Hypogonadotropic Hypogonadism 27 Without Anosmia | Obesity | OMIM:619755 | |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome | Obesity | ORPHA:88643 | |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 | Class III obesity | OMIM:616418 | |
Cortisone Reductase Deficiency 1 | Obesity | OMIM:604931 | |
Obesity, Hyperphagia, And Developmental Delay | Obesity | OMIM:613886 | |
Nephronophthisis 15 | Obesity | OMIM:614845 | |
Hepatic Veno-Occlusive Disease | Increased body weight | ORPHA:890 | |
Coenzyme Q10 Deficiency, Primary, 2 | Overweight, Obesity | OMIM:614651 | |
Bardet-Biedl Syndrome 8 | Obesity | OMIM:615985 | |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency | Obesity | ORPHA:329249 | |
Hypothyroidism, Congenital, Nongoitrous, 6 | Increased body mass index, Increased body weight | OMIM:614450 | |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy | Truncal obesity, Large for gestational age | ORPHA:293964 | |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome | Increased body weight | ORPHA:276608 | |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome | Increased body weight | ORPHA:589905 | |
Acth-Independent Macronodular Adrenal Hyperplasia 2 | Abdominal obesity, Increased body weight | OMIM:615954 | |
Pseudohypoparathyroidism, Type Ib | Obesity | OMIM:603233 | |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive | Small for gestational age, Increased body weight | OMIM:274300 | |
Narcolepsy 7 | Obesity | OMIM:614250 | |
Body Mass Index Quantitative Trait Locus 19 | Obesity | OMIM:617885 | |
Blue Diaper Syndrome | Increased body weight | ORPHA:94086 | |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation | Overgrowth, Small for gestational age, Large for gestational age | ORPHA:254534 | |
Proprotein Convertase 1/3 Deficiency | Obesity | OMIM:600955 | |
Smith-Magenis Syndrome | Increased body weight | OMIM:182290 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type | Increased body weight | OMIM:300860 | |
Pruritic Urticarial Papules And Plaques Of Pregnancy | Increased body weight | ORPHA:64745 | |
Wilson Disease | Failure to thrive, Increased body weight, Weight loss | ORPHA:905 | |
Congenital Hyperinsulinism Due To Hnf4A Deficiency | Increased body weight, Large for gestational age | ORPHA:263455 | |
Insulinoma | Increased body weight | ORPHA:97279 | |
Pigmented Nodular Adrenocortical Disease, Primary, 4 | Increased body weight | OMIM:615830 | |
Sotos Syndrome | Overgrowth, Increased body weight, Tall stature | OMIM:117550 | |
Retinitis Pigmentosa 74 | Obesity | OMIM:616562 | |
Adrenocortical Carcinoma | Increased body weight, Weight loss | ORPHA:1501 | |
Magel2-Related Prader-Willi-Like Syndrome | Abdominal obesity, Failure to thrive, Increased body weight | ORPHA:398069 | |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease | Abdominal obesity, Increased body weight | ORPHA:189427 | |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency | Failure to thrive, Increased body weight | ORPHA:264580 | |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency | Increased body weight | ORPHA:79240 | |
Insulin-Resistance Syndrome Type B | Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss | ORPHA:2298 | |
Hellp Syndrome | Increased body weight | ORPHA:244242 | |
Cushing Disease | Truncal obesity, Abdominal obesity, Increased body weight | ORPHA:96253 | |
Cushing Syndrome Due To Ectopic Acth Secretion | Truncal obesity, Abdominal obesity, Increased body weight, Weight loss | ORPHA:99889 | |
Carney Complex | Abdominal obesity, Increased body weight, Tall stature | ORPHA:1359 | |
Primary Fanconi Renotubular Syndrome | Weight loss | ORPHA:3337 | |
Fanconi Renotubular Syndrome 5 | OMIM:618913 | ||
Mitochondrial Complex I Deficiency, Nuclear Type 17 | OMIM:618239 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ndufaf6tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Ndufaf6tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Ndufaf6tm2a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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