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Gene: Mdh1b MGI:1923918

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Gene Summary

Name:
malate dehydrogenase 1B, NAD (soluble)
Synonyms:
1700124B08Rik

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IMPC Data Collections

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
abnormal retina inner nuclear layer morphology Mdh1bem1(IMPC)Bay HOM Early adult 6.09×10-05

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.

Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Human diseases caused by Mdh1b 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 Mdh1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Coloboma Of Macula
Macular coloboma OMIM:120300
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430

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 Mdh1b

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 Mdh1b.

No publications found that use IMPC mice or data for Mdh1b.

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
Mdh1btm360928(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Mdh1bem1(IMPC)Bay Exon Deletion Mice
Mdh1btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Mdh1btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mdh1btm33895(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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