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Gene: Ndufaf6 MGI:1924197

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Gene Summary

Name:
NADH:ubiquinone oxidoreductase complex assembly factor 6
Synonyms:
2310030N02Rik

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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 weight Ndufaf6tm1a(EUCOMM)Wtsi HET Early adult 5.35×10-10

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Ndufaf6 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.

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
Obesity, Overweight OMIM:613375
Obesity
Obesity, Increased waist to hip ratio 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
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
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Adiposis Dolorosa
Obesity OMIM:103200
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
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
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
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
Immunodeficiency 61
Obesity OMIM:300310
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
Obesity, Overweight OMIM:614651
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
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
Increased body weight, Abdominal obesity OMIM:615954
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
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, Large for gestational age, Small for gestational age ORPHA:254534
Narcolepsy 7
Obesity OMIM:614250
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Insulinoma
Increased body weight ORPHA:97279
Sotos Syndrome
Increased body weight, Tall stature, Overgrowth OMIM:117550
Retinitis Pigmentosa 74
Obesity OMIM:616562
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Abdominal obesity ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Increased body weight, Truncal obesity, Abdominal obesity ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Carney Complex
Increased body weight, Tall stature, Abdominal obesity 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

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 Ndufaf6

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 Ndufaf6.

No publications found that use IMPC mice or data for Ndufaf6.

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
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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