Gene Summary

Name:
protease, serine 12 neurotrypsin (motopsin)
Synonyms:
motopsin,  Bssp-3

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
abnormal eye morphology Prss12em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Prss12em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating lactate dehydrogenase level Prss12em1(IMPC)Ccpcz HOM Early adult 4.14×10-06
abnormal thymus morphology Prss12em1(IMPC)Ccpcz HOM Early adult 0.00
decreased body weight Prss12em1(IMPC)Ccpcz HOM Early adult 7.62×10-05

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

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

Human diseases caused by Prss12 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 Prss12 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Non-Syndromic Intellectual Disability
Depression, Impulsivity ORPHA:88616
Intellectual Developmental Disorder, Autosomal Recessive 1
OMIM:249500

The table below shows human diseases predicted to be associated to Prss12 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300425
Autism
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:209850
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:607373
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Abnormal nonverbal communicative behavior OMIM:300496
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608636
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior ORPHA:444002
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Dopa-Responsive Dystonia
Abnormal social behavior ORPHA:255
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
48,Xxxy Syndrome
Abnormal social behavior ORPHA:96263
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Fg Syndrome Type 1
Abnormal social behavior ORPHA:93932
Proteus Syndrome
Ovarian neoplasm, Splenomegaly, Cachexia, Testicular neoplasm, Thymus hyperplasia, Enlarged polyc... ORPHA:744
Metachromatic Leukodystrophy, Late Infantile Form
Abnormal social behavior ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Abnormal social behavior ORPHA:309263
Metachromatic Leukodystrophy, Adult Form
Abnormal social behavior ORPHA:309271
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Abnormal social behavior ORPHA:177907
Autosomal Recessive Non-Syndromic Intellectual Disability
Depression, Impulsivity ORPHA:88616
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Abnormal social behavior ORPHA:314647
Dihydropyrimidine Dehydrogenase Deficiency
Abnormal social behavior ORPHA:1675
Koolen-De Vries Syndrome Due To A Point Mutation
Overfriendliness, Abnormal social behavior ORPHA:363965
17Q21.31 Microdeletion Syndrome
Overfriendliness, Abnormal social behavior ORPHA:363958
Mend Syndrome
Abnormal social behavior ORPHA:401973
Tuberous Sclerosis Complex
Abnormal social behavior ORPHA:805
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Williams Syndrome
Overfriendliness, Abnormal social behavior ORPHA:904
Intellectual Developmental Disorder, Autosomal Recessive 1
OMIM:249500

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 Prss12

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 Prss12.

No publications found that use IMPC mice or data for Prss12.

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MGI Allele Allele Type Produced
Prss12tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prss12tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Prss12em1(IMPC)Ccpcz Exon Deletion Mice, Tissue

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