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Gene: Cpxm1 MGI:1934569

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Gene Summary

Name:
carboxypeptidase X, M14 family member 1
Synonyms:
Cpx-1

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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
anophthalmia Cpxm1em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Cpxm1em1(IMPC)Tcp HOM Early adult 0.00
increased monocyte cell number Cpxm1em1(IMPC)Tcp HOM Early adult 8.48×10-05
enlarged lymph nodes Cpxm1em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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

Images Slit Lamp

94 Images

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Eye Morphology

Images Ophthalmoscopy

106 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Cpxm1 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 Cpxm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... OMIM:614470
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Anencephaly 2
Anophthalmia OMIM:619452
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Kimura Disease
Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burst, Monocytopen... OMIM:226990
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... OMIM:602450
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia, Abnormal spleen morphology ORPHA:2470
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... ORPHA:276
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Cockayne Syndrome Type 2
Anophthalmia ORPHA:90322
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Trisomy 1Q
Anophthalmia ORPHA:261344
Microphthalmia, Syndromic 9
Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen OMIM:601186
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Cockayne Syndrome Type 1
Anophthalmia, Anemia ORPHA:90321
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Holoprosencephaly
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2162
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Meckel Syndrome
Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:564
Vacterl With Hydrocephalus
Microphthalmia, Anophthalmia ORPHA:3412
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormality of the spleen, Anophthalmia ORPHA:2538
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia ORPHA:1101
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia OMIM:300755
Fraser Syndrome 1
Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos OMIM:219000
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Charge Syndrome
Microphthalmia, Anophthalmia ORPHA:138
Charge Syndrome
Anophthalmia, Unilateral microphthalmos, Microphthalmia, Lymphopenia, Aplasia/Hypoplasia of the t... OMIM:214800
Focal Dermal Hypoplasia
Aniridia, Microphthalmia, Anophthalmia OMIM:305600
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia OMIM:300166
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Fraser Syndrome
Microphthalmia, Anophthalmia ORPHA:2052
Branchiooculofacial Syndrome
Microphthalmia, Ectopic thymus tissue, Anophthalmia OMIM:113620
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800

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 Cpxm1

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 Cpxm1.

No publications found that use IMPC mice or data for Cpxm1.

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MGI Allele Allele Type Produced
Cpxm1tm49789(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Cpxm1em1(IMPC)Tcp Exon Deletion Mice

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