Gene Summary

Name:
AT hook containing transcription factor 1
Synonyms:
Elys,  6230412P20Rik

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
preweaning lethality, complete penetrance Ahctf1em1(IMPC)Hmgu HOM   Early adult 3.19×10-09
abnormal vitreous body morphology Ahctf1em1(IMPC)Hmgu HET   Early adult 3.16×10-05

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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Ahctf1 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 Ahctf1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia OMIM:165550
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system ORPHA:231736
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Coloboma, Ocular, Autosomal Dominant
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic disc coloboma OMIM:120200
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment ORPHA:2714
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment OMIM:221900
Neurofibromatosis Type 2
Remnants of the hyaloid vascular system ORPHA:637
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment OMIM:300166
Norrie Disease
Remnants of the hyaloid vascular system, Optic atrophy, Retinal detachment ORPHA:649
Neuroocular Syndrome
Remnants of the hyaloid vascular system OMIM:619539

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 Ahctf1

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 Ahctf1.

No publications found that use IMPC mice or data for Ahctf1.

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MGI Allele Allele Type Produced
Ahctf1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ahctf1em1(IMPC)Hmgu Indel Mice
Ahctf1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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