Gene Summary

Name:
excision repair cross-complementing rodent repair deficiency, complementation group 4
Synonyms:
Xpf

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
decreased grip strength Ercc4em1(IMPC)J HET Early adult 5.79×10-09
anophthalmia Ercc4em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Ercc4em1(IMPC)J 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.

Gross Morphology Embryo E18.5

Images

4 Images

Electrocardiogram (ECG)

Waveform Image

14 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Ercc4 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 Ercc4 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ercc4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Defective DNA repair after ultraviolet radiation damage, Small for gestational age OMIM:278780
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Anencephaly 2
Anophthalmia OMIM:619452
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Glycogen Storage Disease Vi
Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232700
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Abnormality of chromosome stability, Intrauterine growth retardation OMIM:600546
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Short stature, Chromosome breakage, Failure to thrive... OMIM:609981
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Trisomy 13
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:3378
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage, Elevated circulating hepatic transaminas... OMIM:610965
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Glycogen Storage Disease Ixc
Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:613027
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Trisomy 1Q
Anophthalmia ORPHA:261344
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Small for gestational age, Short statu... OMIM:600901
Fanconi Anemia, Complementation Group D2
Annular pancreas, Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Paten... OMIM:227646
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Small for gestational age, Short statu... OMIM:227650
Fanconi Anemia, Complementation Group C
Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Intrauterine growth ret... OMIM:227645
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia OMIM:206900
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia OMIM:601186
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Fibular Hemimelia
Anophthalmia ORPHA:93323
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Trichothiodystrophy
Intrauterine growth retardation, Defective DNA repair after ultraviolet radiation damage ORPHA:33364
Holoprosencephaly
Microphthalmia, Anophthalmia ORPHA:2162
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Anophthalmia OMIM:605627
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Severe short stature OMIM:278800
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Fanconi Anemia, Complementation Group Q
Growth delay, Chromosome breakage, Biliary atresia, Short stature OMIM:615272
Meckel Syndrome
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia ORPHA:564
Joubert Syndrome 21
Anophthalmia OMIM:615636
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Proboscis Lateralis
Optic nerve hypoplasia, Microphthalmia, Anophthalmia ORPHA:141099
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia OMIM:219000
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia OMIM:300166
Focal Dermal Hypoplasia
Microphthalmia, Aniridia, Anophthalmia OMIM:305600
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Charge Syndrome
Microphthalmia, Unilateral microphthalmos, Anophthalmia OMIM:214800
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia OMIM:113620
Fanconi Anemia
Azoospermia, Abnormality of chromosome stability, Short stature, Growth delay, Weight loss, Paten... ORPHA:84
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Cachexia ORPHA:220295
Xeroderma Pigmentosum
Short stature, Failure to thrive ORPHA:910

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 Ercc4

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 Ercc4.

No publications found that use IMPC mice or data for Ercc4.

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
Ercc4em1(IMPC)J Exon Deletion Mice
Ercc4tm43474(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ercc4tm43474(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter