Gene: Kdm7a MGI:2443388

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Gene Summary

Name:
lysine (K)-specific demethylase 7A
Synonyms:
A630082K20Rik,  ENSMUSG00000073143,  Kdm7a,  Jhdm1d

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
vertebral transformation Kdm7atm1a(EUCOMM)Wtsi HOM Early adult 7.17×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 74 images

Human diseases caused by Kdm7a 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 Kdm7a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cervical Vertebral Dysplasia
Cervical vertebral facet hypoplasia, Cervical vertebral dysplasia, Anterior atlanto-occipital dis... OMIM:118005
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Vertebral segmentation defect,... OMIM:609813
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hypogonadism, Increased serum iron, Abnormality of ... OMIM:613313
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Decreased serum iron, Brittle hair, Pili canaliculi, Woolly hair, T... OMIM:614602
Copper Deficiency, Familial Benign
Curly hair, Early balding, Abnormal circulating copper concentration, Decreased circulating coppe... OMIM:121270
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased serum iron, Diabetes mellitus, Acerulopla... OMIM:604290
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Increased serum iron, Unconjugated hyperbilirubinem... ORPHA:766
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Testicular atrophy, Alopecia, Diabetes mellitus, Hy... OMIM:235200
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Decreased transferrin saturation, Hypothyroidism, A... ORPHA:300298
African Iron Overload
Increased circulating ferritin concentration, Increased circulating cortisol level, Abnormal panc... ORPHA:139507
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormality of iron homeostasis, Cholelithiasis ORPHA:848
Gracile Syndrome
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran... ORPHA:53693
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hypothyroidism, De... ORPHA:465508
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Increased serum iron, Hirsutism, Hypertrichosis, Ab... ORPHA:101330
Aceruloplasminemia
Increased circulating ferritin concentration, Decreased circulating copper concentration, Decreas... ORPHA:48818
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Hypothyroidism, Cholelithiasis, Adrenal insufficiency, Elevated ... ORPHA:231222
Trichohepatoenteric Syndrome 1
Sparse hair, Abnormality of iron homeostasis, Increased serum iron, Curly hair, Hypermethioninemi... OMIM:222470
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypothyroidism, Hypopituitarism, Adrenal insufficiency, Delayed ... ORPHA:231226
Syndromic Diarrhea
Hypopigmentation of hair, Abnormality of iron homeostasis, Hypothyroidism, Uncombable hair, Hypop... ORPHA:84064
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypothyroidism, Hypopituitarism, Adrenal insufficiency, Delayed ... ORPHA:231214
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Hyperglycinemia, Abnormal transferrin saturation, Decrease... ORPHA:309854

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 Kdm7a

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 Kdm7a.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Kdm7atm1a(EUCOMM)Wtsi PMC5827107
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Kdm7atm1a(EUCOMM)Wtsi PMC3996542

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MGI Allele Allele Type Produced
Kdm7atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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