C3H101H-Pax3Sp-2H/H

Status

Available to order

EMMA IDEM:02535
Citation informationRRID:IMSR_EM:02535 

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International strain nameC3H101H-Pax3Sp-2H/H
Alternative nameSplotch (C3H101H-Pax3)
Strain typeInduced Mutant Strains : Radiation-induced
Allele/Transgene symbolPax3Sp-2H
Gene/Transgene symbolPax3

Information from provider

ProviderColin Beechey
Provider affiliationMRC Harwell, Didcot, Oxon, OX11 0RD
Genetic informationA deletion of 32 nucleotides occurred in the gene sequence that encodes from alanine 237 to threonine 248. This deletion removed part of the paired homeodomain of the protein and created a termination codon immediately downstream of alanine 237 resulting in a truncated protein that lacks its C-terminal half. Mutation was confirmed by Southern blots and both genomic- and RT-PCR.
Phenotypic informationHeterozygotes show ventral white spotting often extending to the feet and tail. Slightly lighter coat than Sp1H.
Breeding historyBackcrossed to C3H/HeH x 101/H.
References
  • Mutations at the Sp locus ;Beechey CV, Searle AG ;1986;Mouse News Lett.;75;28 ;
Homozygous fertileno
Homozygous viableno
Homozygous matings requiredno
Immunocompromisednot known

Information from EMMA

Archiving centreMary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • diluted coat color / MGI
  • belly spot / MGI
  • abnormal myogenesis / MGI
  • spina bifida / MGI
  • abnormal muscle precursor cell migration / MGI
  • abnormal dermomyotome development / MGI
  • prenatal lethality, complete penetrance / MGI
  • exencephaly / MGI
  • open neural tube / MGI
  • abnormal neural tube morphology / MGI
  • persistent truncus arteriosis / MGI
  • dilated heart left ventricle / MGI
  • dilated heart right ventricle / MGI
  • abnormal myocardial fiber physiology / MGI
  • abnormal neural fold elevation formation / MGI
  • decreased ventricle muscle contractility / MGI
  • ventricular septal defect / MGI
  • lethality throughout fetal growth and development, incomplete penetrance / MGI
MGI phenotypes (gene matching)
  • thin ventricular wall / MGI
  • abnormal interventricular septum morphology / MGI
  • double outlet right ventricle / MGI
  • decreased cell proliferation / MGI
  • diluted coat color / MGI
  • belly spot / MGI
  • abnormal hindlimb morphology / MGI
  • kinked tail / MGI
  • abnormal thyroid gland morphology / MGI
  • abnormal thymus morphology / MGI
  • abnormal myogenesis / MGI
  • abnormal muscle development / MGI
  • abnormal myotome development / MGI
  • abnormal skeletal muscle morphology / MGI
  • thin diaphragm muscle / MGI
  • abnormal brain ventricle morphology / MGI
  • abnormal lateral ventricle morphology / MGI
  • abnormal hindbrain morphology / MGI
  • exencephaly / MGI
  • incomplete rostral neuropore closure / MGI
  • open neural tube / MGI
  • small embryonic telencephalon / MGI
  • abnormal spinal cord morphology / MGI
  • abnormal dorsal root ganglion morphology / MGI
  • disorganized dorsal root ganglion / MGI
  • absent skin pigmentation / MGI
  • decreased body size / MGI
  • cyanosis / MGI
  • abnormal somite development / MGI
  • failure to gastrulate / MGI
  • decreased embryo size / MGI
  • respiratory distress / MGI
  • neoplasm / MGI
  • abnormal coat/hair pigmentation / MGI
  • abnormal limb morphology / MGI
  • abnormal tail morphology / MGI
  • abnormal neural tube morphology / MGI
  • no abnormal phenotype detected / MGI
  • abnormal pulmonary alveolus morphology / MGI
  • abnormal thymus lobule morphology / MGI
  • abnormal semicircular canal morphology / MGI
  • delayed neural tube closure / MGI
  • persistent truncus arteriosis / MGI
  • abnormal pharyngeal arch artery morphology / MGI
  • dilated heart left ventricle / MGI
  • dilated heart right ventricle / MGI
  • white spotting / MGI
  • head spot / MGI
  • variable body spotting / MGI
  • abnormal neural crest cell migration / MGI
  • small thyroid gland / MGI
  • ectopic thymus / MGI
  • no phenotypic analysis / MGI
  • curly tail / MGI
  • spina bifida / MGI
  • abnormal muscle precursor cell migration / MGI
  • decreased cochlear coiling / MGI
  • nervous system phenotype / MGI
  • abnormal midbrain development / MGI
  • abnormal tongue muscle morphology / MGI
  • retroesophageal right subclavian artery / MGI
  • abnormal dermomyotome development / MGI
  • abnormal myocardial fiber physiology / MGI
  • abnormal bony labyrinth / MGI
  • increased mitotic index / MGI
  • abnormal neural fold elevation formation / MGI
  • absent skeletal muscle / MGI
  • absent ultimobranchial body / MGI
  • absent coat pigmentation / MGI
  • absent thyroid gland / MGI
  • hearing/vestibular/ear phenotype / MGI
  • embryo phenotype / MGI
  • cardiovascular system phenotype / MGI
  • vision/eye phenotype / MGI
  • hypopigmentation / MGI
  • decreased ventricle muscle contractility / MGI
  • abnormal endolymphatic duct morphology / MGI
  • abnormal otic vesicle development / MGI
  • abnormal vena cava morphology / MGI
  • abnormal vestibular saccule morphology / MGI
  • abnormal utricle morphology / MGI
  • abnormal cardiac outflow tract development / MGI
  • congestive heart failure / MGI
  • absent hypaxial muscle / MGI
  • abnormal sixth pharyngeal arch artery morphology / MGI
  • short endolymphatic duct / MGI
  • abnormal ventral coat pigmentation / MGI
  • absent dorsal root ganglion / MGI
  • embryonic lethality / MGI
  • caudal rachischisis / MGI
  • abnormal tail hair pigmentation / MGI
  • abnormal hind foot hair pigmentation / MGI
  • variable depigmentation / MGI
  • transverse fur striping / MGI
  • ventricular septal defect / MGI
  • muscular ventricular septal defect / MGI
  • persistent right dorsal aorta / MGI
  • common truncal valve / MGI
  • patent tricuspid valve / MGI
  • dilated pulmonary trunk / MGI
  • thick interventricular septum / MGI
  • integument phenotype / MGI
  • postnatal lethality, complete penetrance / MGI
  • neonatal lethality, incomplete penetrance / MGI
  • perinatal lethality, complete penetrance / MGI
  • prenatal lethality, complete penetrance / MGI
  • embryonic lethality between implantation and somite formation, complete penetrance / MGI
  • embryonic lethality during organogenesis, complete penetrance / MGI
  • lethality throughout fetal growth and development, complete penetrance / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • embryonic lethality, incomplete penetrance / MGI
  • embryonic lethality during organogenesis, incomplete penetrance / MGI
  • lethality throughout fetal growth and development, incomplete penetrance / MGI
  • decreased tail pigmentation / MGI
  • abnormal diaphragm development / MGI
  • spina bifida cystica / MGI
  • increased embryonic neuroepithelium apoptosis / MGI
  • abnormal common carotid artery morphology / MGI
  • abnormal mammary line morphology / MGI
  • abnormal mammary placode morphology / MGI
  • abnormal embryo morphology / MGI
  • abnormal hypoglossal cord morphology / MGI

Literature references

  • Mutations at the Sp locus ;Beechey CV, Searle AG ;1986;Mouse News Lett.;75;28 ;

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