C3H101HF1 x STOCK Fras1bl Fgf5go/H

Status

Available to order

EMMA IDEM:02533
Citation informationRRID:IMSR_EM:02533 

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International strain nameC3H101HF1 x STOCK Fras1bl Fgf5go/H
Alternative nameblebbed
Strain typeInduced Mutant Strains : Radiation-induced
Allele/Transgene symbolFras1bl, Fgf5go
Gene/Transgene symbolFras1, Fgf5

Information from provider

ProviderRJS Phillips
Provider affiliationMedical Research Council
Genetic informationThe mutation in the bleb mouse was identified as nucleotide changes within the 47th exon, 7313CC to AA. This nonsense mutation, was not identified in 9 other strains of mice.
Phenotypic informationHomozygotes usually have reduced eyes, many have clubbed feet and one or both kidneys may be absent. Blebs under the skin may still be visible at birth. Most homozygotes die before birth.
Breeding historyMaintained on a mixed (C3H/HeH x 101/H) F1 background.
References
  • Blebbed, bl;Phillips RJS;1970;Mouse News Lett.;42;26; 12766769
  • Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.;McGregor Lesley, Makela Ville, Darling Susan M, Vrontou Sofia, Chalepakis Georges, Roberts Catherine, Smart Nicola, Rutland Paul, Prescott Natalie, Hopkins Jason, Bentley Elizabeth, Shaw Alison, Roberts Emma, Mueller Robert, Jadeja Shalini, Philip Nicole, Nelson John, Francannet Christine, Perez-Aytes Antonio, Megarbane Andre, Kerr Bronwyn, Wainwright Brandon, Woolf Adrian S, Winter Robin M, Scambler Peter J, ;2003;Nature genetics;34;203-8;
Homozygous fertilenot known
Homozygous viableyes
Homozygous matings requirednot known
Immunocompromisednot known

Information from EMMA

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

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • absent kidney / MGI
  • abnormal kidney development / MGI
  • delayed kidney development / MGI
  • syndactyly / MGI
  • clubfoot / MGI
  • microphthalmia / MGI
  • abnormal hair growth / MGI
  • small kidney / MGI
  • single kidney / MGI
  • kidney cysts / MGI
  • abnormal basement membrane morphology / MGI
  • impaired branching involved in ureteric bud morphogenesis / MGI
  • cryptophthalmos / MGI
  • abnormal ureteric bud morphology / MGI
  • bleb / MGI
  • fetal bleb / MGI
  • abnormal metanephric mesenchyme morphology / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • abnormal metanephros morphology / MGI
  • increased metanephric mesenchyme apoptosis / MGI
  • cortical renal glomerulopathies / MGI
  • glomerulosclerosis / MGI
  • abnormal renal glomerulus morphology / MGI
  • renal/urinary system phenotype / MGI
  • integument phenotype / MGI
  • abnormal glomerular capillary morphology / MGI
  • abnormal glomerular mesangium morphology / MGI
  • abnormal glomerular capsule space morphology / MGI
MGI phenotypes (gene matching)
  • abnormal rib morphology / MGI
  • abnormal sternum morphology / MGI
  • absent kidney / MGI
  • cortical renal glomerulopathies / MGI
  • abnormal kidney development / MGI
  • delayed kidney development / MGI
  • syndactyly / MGI
  • clubfoot / MGI
  • abnormal lung morphology / MGI
  • abnormal lung development / MGI
  • blistering / MGI
  • microphthalmia / MGI
  • eyelids open at birth / MGI
  • hemorrhage / MGI
  • abnormal hair growth / MGI
  • abnormal eye morphology / MGI
  • abnormal digit morphology / MGI
  • micrognathia / MGI
  • small kidney / MGI
  • no phenotypic analysis / MGI
  • single kidney / MGI
  • kidney cysts / MGI
  • abnormal lung vasculature morphology / MGI
  • abnormal basement membrane morphology / MGI
  • abnormal sternebra morphology / MGI
  • impaired branching involved in ureteric bud morphogenesis / MGI
  • cryptophthalmos / MGI
  • glomerulosclerosis / MGI
  • narrow eye opening / MGI
  • abnormal renal glomerulus morphology / MGI
  • renal/urinary system phenotype / MGI
  • craniofacial phenotype / MGI
  • abnormal ureteric bud morphology / MGI
  • abnormal lung epithelium morphology / MGI
  • bleb / MGI
  • fetal bleb / MGI
  • abnormal secondary palate development / MGI
  • preaxial polydactyly / MGI
  • abnormal palatal shelf fusion at midline / MGI
  • cleft secondary palate / MGI
  • perimembraneous ventricular septal defect / MGI
  • integument phenotype / MGI
  • fused right lung lobes / MGI
  • abnormal metanephric mesenchyme morphology / MGI
  • lethality throughout fetal growth and development, complete penetrance / MGI
  • prenatal lethality, incomplete penetrance / MGI
  • lethality throughout fetal growth and development, incomplete penetrance / MGI
  • abnormal glomerular capillary morphology / MGI
  • abnormal glomerular mesangium morphology / MGI
  • abnormal metanephros morphology / MGI
  • increased metanephric mesenchyme apoptosis / MGI
  • abnormal glomerular capsule space morphology / MGI

Literature references

  • Blebbed, bl;Phillips RJS;1970;Mouse News Lett.;42;26; 12766769
  • Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.;McGregor Lesley, Makela Ville, Darling Susan M, Vrontou Sofia, Chalepakis Georges, Roberts Catherine, Smart Nicola, Rutland Paul, Prescott Natalie, Hopkins Jason, Bentley Elizabeth, Shaw Alison, Roberts Emma, Mueller Robert, Jadeja Shalini, Philip Nicole, Nelson John, Francannet Christine, Perez-Aytes Antonio, Megarbane Andre, Kerr Bronwyn, Wainwright Brandon, Woolf Adrian S, Winter Robin M, Scambler Peter J, ;2003;Nature genetics;34;203-8;

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