Gene Summary

Name:
serine (or cysteine) peptidase inhibitor, clade B, member 9c
Synonyms:
Spi11,  ovalbumin,  3830421J05Rik,  NK9

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 auditory brainstem response Serpinb9cem1(IMPC)J HOM   Early adult 3.92×10-05

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 Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Serpinb9c 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 Serpinb9c by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... ORPHA:90321
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Cockayne Syndrome A
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:216400
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973

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 Serpinb9c

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 Serpinb9c.

No publications found that use IMPC mice or data for Serpinb9c.

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
Serpinb9cem1(IMPC)J Exon Deletion Mice
Serpinb9ctm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Serpinb9ctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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