Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

5'-3' exoribonuclease 1
Dhm2,  mXrn1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Xrn1 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 Xrn1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Meckel Syndrome, Type 2
Intrauterine growth retardation, Meningocele, Anencephaly, Encephalocele OMIM:603194
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly OMIM:611134
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ... ORPHA:1908
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Chiari Malformation Type Ii
Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida OMIM:207950
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Wildervanck Syndrome
Meningocele ORPHA:3456
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Humero-Radial Synostosis
Meningocele ORPHA:3265
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Intrauterine growth retardation, Spina bifida ORPHA:1327
Intellectual Developmental Disorder, Autosomal Dominant 72
Spina bifida OMIM:620439
Sirenomelia, Spina bifida ORPHA:3169
Cerebrocostomandibular Syndrome
Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Short stature, ... ORPHA:1393
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect ORPHA:268810
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Intrauterine growth retardation, Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:3376
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Short stature, Spina bifida occulta, Meningocele ORPHA:2311
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Fountain Syndrome
Short stature, Spina bifida occulta, Spina bifida ORPHA:3219
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Hydroc... ORPHA:2839
Joubert Syndrome 14
Hydrocephalus, Meningocele, Growth delay, Encephalocele OMIM:614424
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Hydrocephalus, Spina bifida, Holo... ORPHA:63259
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Fliedner-Zweier Syndrome
Meningocele OMIM:620511
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Lateral Meningocele Syndrome
Short stature, Meningocele, Hydrocephalus, Umbilical hernia OMIM:130720
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Trisomy 18
Growth delay, Intrauterine growth retardation, Spina bifida, Short stature, Holoprosencephaly, An... ORPHA:3380
Lateral Meningocele Syndrome
Meningocele, Umbilical hernia ORPHA:2789
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Chromosome 17P13.1 Deletion Syndrome
Hydrocephalus, Spina bifida, Umbilical hernia OMIM:613776
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Short stature, Men... ORPHA:397715
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Intrauterine growth retardation, Meningocele ORPHA:46059
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Pagod Syndrome
Short stature, Meningocele, Encephalocele, Spina bifida ORPHA:991
Limb Body Wall Complex
Myelomeningocele, Encephalocele, Short umbilical cord, Hydrocephalus, Spina bifida, Spina bifida ... ORPHA:2369
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele, Disproportionate short stature ORPHA:2879
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Hallermann-Streiff Syndrome
Spina bifida, Proportionate short stature OMIM:234100
Focal Dermal Hypoplasia
Spina bifida, Umbilical hernia ORPHA:2092
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Hydrocephalus, Occipital meningocele OMIM:616546
Fibular Hemimelia
Spina bifida ORPHA:93323
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Jacobsen Syndrome
Short stature, Intrauterine growth retardation, Growth delay, Spina bifida ORPHA:2308
Neu-Laxova Syndrome 1
Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Neonatal ... OMIM:256520
Fanconi Anemia
Umbilical hernia, Intrauterine growth retardation, Hydrocephalus, Spina bifida, Short stature, Gr... ORPHA:84
Neurofibromatosis, Type I
Short stature, Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
22Q11.2 Deletion Syndrome
Umbilical hernia, Intrauterine growth retardation, Hydrocephalus, Spina bifida, Short stature, Me... ORPHA:567
Orofaciodigital Syndrome Vi
Short stature, Occipital meningocele OMIM:277170
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Spina bifida ORPHA:508498
Vater/Vacterl Association
Occipital encephalocele, Postnatal growth retardation, Intrauterine growth retardation, Spina bif... OMIM:192350
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... OMIM:114290
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Spina bifida, Postnatal growth retardation ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Spina bifida, Postnatal growth retardation ORPHA:363958
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Thrombocytopenia-Absent Radius Syndrome
Short stature, Spina bifida OMIM:274000
Rubinstein-Taybi Syndrome 1
Postnatal growth retardation, Spina bifida, Short stature, Spina bifida occulta, Growth delay OMIM:180849
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Occipital meningocele OMIM:267750
Arima Syndrome
Occipital meningocele, Growth delay OMIM:243910
Holoprosencephaly 9
Alobar holoprosencephaly, Hydrocephalus, Short stature, Holoprosencephaly, Occipital meningocele OMIM:610829
Cutis Laxa, Autosomal Recessive, Type Ib
Spina bifida, Neonatal death OMIM:614437
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Postnatal growth retardation, Hydrocephalus, Spina bifida, Stillbirth, Short st... OMIM:304120
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Femoral-Facial Syndrome
Short stature, Encephalocele, Spina bifida OMIM:134780
Marfan Syndrome
Meningocele ORPHA:558
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Disproportionate short stature, Occipital meningocele OMIM:276820


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 Xrn1

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 Xrn1.

No publications found that use IMPC mice or data for Xrn1.

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MGI Allele Allele Type Produced
Xrn1tm299453(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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