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Gene: Tbcd MGI:1919686

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Gene Summary

Name:
tubulin-specific chaperone d
Synonyms:
2310057L06Rik,  A030005L14Rik

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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
preweaning lethality, complete penetrance Tbcdem1(IMPC)Bay HOM   Early adult 0.00

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.

Electrocardiogram (ECG)

Waveform Image

1 Images

View images

Human diseases caused by Tbcd 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 Tbcd by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
ORPHA:496641
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
OMIM:617193

The table below shows human diseases predicted to be associated to Tbcd by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
ORPHA:496641
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
OMIM:617193

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 Tbcd

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 Tbcd.

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

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MGI Allele Allele Type Produced
Tbcdem1(IMPC)Bay Exon Deletion Mice

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