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Gene: Ift52 MGI:2387217

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Gene Summary

Name:
intraflagellar transport 52
Synonyms:
NGD5

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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 Ift52em1(IMPC)Bay HOM   Early adult 0.00
abnormal visceral yolk sac morphology Ift52em1(IMPC)Bay HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Ift52em1(IMPC)Bay HOM   E12.5 0.00
hemorrhage Ift52em1(IMPC)Bay HOM E9.5 0.00
abnormal forebrain development Ift52em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Ift52em1(IMPC)Bay HOM E9.5 0.00
abnormal heart morphology Ift52em1(IMPC)Bay HOM E9.5 0.00
embryonic growth retardation Ift52em1(IMPC)Bay HET E9.5 0.00
abnormal heart looping Ift52em1(IMPC)Bay HOM E9.5 0.00
abnormal midbrain development Ift52em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo size Ift52em1(IMPC)Bay HET E9.5 0.00
edema Ift52em1(IMPC)Bay HOM E9.5 0.00
pale yolk sac Ift52em1(IMPC)Bay HOM E9.5 0.00
abnormal embryo turning Ift52em1(IMPC)Bay HET E9.5 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.

Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right fundus

15 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right eye

16 Images

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Human diseases caused by Ift52 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 Ift52 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature OMIM:617102
Cranioectodermal Dysplasia
Rhizomelia ORPHA:1515

The table below shows human diseases predicted to be associated to Ift52 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... OMIM:617300
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... OMIM:212093
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly OMIM:601374
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short stature OMIM:617102
Cranioectodermal Dysplasia
Rhizomelia ORPHA:1515

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 Ift52

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 Ift52.

No publications found that use IMPC mice or data for Ift52.

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
Ift52tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ift52tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ift52em1(IMPC)Bay Exon Deletion Mice

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