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Gene: Prim1 MGI:97757

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Gene Summary

Name:
DNA primase, p49 subunit
Synonyms:
N/A

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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
embryonic lethality prior to organogenesis Prim1em1(IMPC)J HOM   E9.5 0.00
preweaning lethality, complete penetrance Prim1em1(IMPC)J HOM   Early adult 0.00
hyperactivity Prim1em1(IMPC)J HET Early adult 2.58×10-05

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

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

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 Lateral Orientation

10 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 Prim1 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 Prim1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
OMIM:620005

The table below shows human diseases predicted to be associated to Prim1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Agitation ORPHA:100973
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity OMIM:605899
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Histidinemia
Hyperactivity ORPHA:2157
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
OMIM:620005

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 Prim1

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 Prim1.

No publications found that use IMPC mice or data for Prim1.

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
Prim1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prim1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Prim1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Prim1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Prim1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Prim1em1(IMPC)J Exon Deletion Mice

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