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Gene: Ercc4 MGI:1354163

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Gene Summary

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

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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
decreased body length Ercc4em1(IMPC)J HET Early adult 4.53×10-30
decreased grip strength Ercc4em1(IMPC)J HET Early adult 5.79×10-09
preweaning lethality, complete penetrance Ercc4em1(IMPC)J HOM   Early adult 0.00
anophthalmia Ercc4em1(IMPC)J HOM E18.5 0.00

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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.

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Electrocardiogram (ECG)

Waveform Image

14 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

8 Images

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Short stature, Defective DNA repair after ultraviolet radiation damage OMIM:278760
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Cachexia, Severe short stature OMIM:610965
Fanconi Anemia, Complementation Group Q
Biliary atresia, Growth delay, Short stature OMIM:615272
Fanconi Anemia
Intrauterine growth retardation, Growth delay, Short stature, Azoospermia, Weight loss, Patent du... ORPHA:84
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Short stature ORPHA:220295
Xeroderma Pigmentosum
Failure to thrive, Short stature ORPHA:910

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
Anophthalmia, Microphthalmia ORPHA:85275
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Anencephaly 2
Anophthalmia OMIM:619452
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Increased hepatic glycogen content, Postnatal growth ... OMIM:232700
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Growth delay OMIM:278780
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Short stature, Defective DNA repair after ultraviolet radiation damage OMIM:278760
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ... OMIM:617093
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Trisomy 13
Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:3378
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610125
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Glycogen Storage Disease Ixc
Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome... OMIM:613027
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia ORPHA:77298
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Microphthalmia, Syndromic 3
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:206900
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Fanconi Anemia, Complementation Group D2
Short stature, Deficient excision of UV-induced pyrimidine dimers in DNA, Small for gestational a... OMIM:227646
Fanconi Anemia, Complementation Group E
Short stature, Small for gestational age, Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:600901
Fanconi Anemia, Complementation Group A
Short stature, Small for gestational age, Deficient excision of UV-induced pyrimidine dimers in DNA OMIM:227650
Fanconi Anemia, Complementation Group C
Short stature, Intrauterine growth retardation, Small for gestational age, Deficient excision of ... OMIM:227645
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Severe short stature OMIM:278800
Trisomy 1Q
Anophthalmia ORPHA:261344
Microphthalmia, Syndromic 9
Anophthalmia, Bilateral microphthalmos OMIM:601186
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Aniridia ORPHA:1101
Fibular Hemimelia
Anophthalmia ORPHA:93323
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Trichothiodystrophy
Defective DNA repair after ultraviolet radiation damage, Intrauterine growth retardation ORPHA:33364
Joubert Syndrome 21
Anophthalmia OMIM:615636
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Holoprosencephaly
Anophthalmia, Microphthalmia ORPHA:2162
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Microgastria-Limb Reduction Defects Association
Anophthalmia OMIM:156810
Craniofacial Microsomia
Anophthalmia, Microphthalmia OMIM:164210
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Optic nerve aplasia ORPHA:264200
Meckel Syndrome
Anophthalmia, Microphthalmia, Aplasia/Hypoplasia of the iris ORPHA:564
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Microphthalmia OMIM:610829
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Microphthalmia ORPHA:2556
Proboscis Lateralis
Anophthalmia, Optic nerve hypoplasia, Microphthalmia ORPHA:141099
Charge Syndrome
Anophthalmia, Microphthalmia ORPHA:138
Focal Dermal Hypoplasia
Anophthalmia, Microphthalmia, Aniridia OMIM:305600
Fraser Syndrome 1
Anophthalmia, Bilateral microphthalmos OMIM:219000
Microphthalmia, Syndromic 2
Anophthalmia, Microphthalmia OMIM:300166
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Microphthalmia OMIM:214800
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Microphthalmia, Syndromic 1
Anophthalmia, Microphthalmia OMIM:309800
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Cachexia, Severe short stature OMIM:610965
Fanconi Anemia, Complementation Group Q
Biliary atresia, Growth delay, Short stature OMIM:615272
Fanconi Anemia
Intrauterine growth retardation, Growth delay, Short stature, Azoospermia, Weight loss, Patent du... ORPHA:84
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Short stature ORPHA:220295
Xeroderma Pigmentosum
Failure to thrive, Short stature 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.

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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

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