Cftrtm1.1(R553*)Ics/Ics

Status	Available to order
EMMA ID	EM:16180
Citation information	RRID:IMSR_EM:16180 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	Cftrtm1.1(R553*)Ics/Ics
Alternative name	Cftrtm1.1(R553*)Ics/Ics
Strain type	Targeted Mutant Strains : Point mutation
Allele/Transgene symbol	Cftr^{tm1.1(R553*)Ics}
Gene/Transgene symbol	Cftr

Information from provider

Provider	Fabrice Lejeune
Provider affiliation	CANTHER - Cancer Heterogeneity Plasticity and Resistance to Therapies, CNRS, INSERM, UMR9020-U1277
Genetic information	Arginine codon 553 (CGT) in exon 12 (GRCm39, Cftr-201) was changed to a stop codon (TGA) (p.R553*) and a loxP site flanked auto-excision cassette, containing a protamin promoter-driven cre gene plus a neomycin resistance gene, was inserted into intron 12.
Phenotypic information	Homozygous: N/A Heterozygous: N/A
Breeding history	C57BL/6N 100%
References	Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis.;Leroy Catherine, Spelier Sacha, Essonghe Nadège Charlene, Poix Virginie, Kong Rebekah, Gizzi Patrick, Bourban Claire, Amand Séverine, Bailly Christine, Guilbert Romain, Hannebique David, Persoons Philippe, Arhant Gwenaëlle, Prévotat Anne, Reix Philippe, Hubert Dominique, Gérardin Michèle, Chamaillard Mathias, Prevarskaya Natalia, Rebuffat Sylvie, Shapovalov George, Beekman Jeffrey, Lejeune Fabrice, ;2023;Molecular therapy : the journal of the American Society of Gene Therapy;31;970-985; 36641622
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Cystic fibrosis / Orphanet_586
Congenital bilateral absence of vas deferens / Orphanet_48

MGI phenotypes (gene matching)

decreased neutrophil cell number / MGI
impaired fertilization / MGI
abnormal intestine morphology / MGI
abnormal crypts of Lieberkuhn morphology / MGI
crypts of Lieberkuhn abscesses / MGI
abnormal colon morphology / MGI
abnormal small intestine morphology / MGI
abnormal intestinal mucosa morphology / MGI
intestinal ulcer / MGI
abnormal hepatocyte morphology / MGI
abnormal salivary gland morphology / MGI
spleen hyperplasia / MGI
small ovary / MGI
abnormal uterine cervix morphology / MGI
abnormal lung morphology / MGI
atelectasis / MGI
decreased body length / MGI
decreased body weight / MGI
weight loss / MGI
decreased body size / MGI
distended abdomen / MGI
abnormal lacrimal gland morphology / MGI
abnormal gait / MGI
aphagia / MGI
abnormal digestive system physiology / MGI
postnatal growth retardation / MGI
abnormal ion homeostasis / MGI
abnormal fluid regulation / MGI
abnormal thymus involution / MGI
lung inflammation / MGI
reduced male fertility / MGI
reduced female fertility / MGI
female infertility / MGI
decreased litter size / MGI
delayed sexual maturation / MGI
abnormal pancreas morphology / MGI
premature death / MGI
abnormal respiratory system physiology / MGI
abnormal gland morphology / MGI
no abnormal phenotype detected / MGI
abnormal nasal mucosa morphology / MGI
abnormal paranasal sinus morphology / MGI
abnormal bronchus morphology / MGI
abnormal pulmonary alveolus morphology / MGI
abnormal trachea morphology / MGI
abnormal vital capacity / MGI
increased susceptibility to infection / MGI
increased susceptibility to bacterial infection / MGI
small uterus / MGI
asthenozoospermia / MGI
decreased corpora lutea number / MGI
abnormal pancreas physiology / MGI
abnormal vas deferens morphology / MGI
abnormal bile duct morphology / MGI
no phenotypic analysis / MGI
gallbladder inflammation / MGI
intestinal obstruction / MGI
peritoneal inflammation / MGI
acute pancreas inflammation / MGI
decreased ovulation rate / MGI
pulmonary interstitial fibrosis / MGI
abnormal intestinal goblet cell morphology / MGI
impaired sperm capacitation / MGI
abnormal submandibular gland morphology / MGI
abnormal jejunum morphology / MGI
transmission ratio distortion / MGI
small pancreas / MGI
abnormal sperm physiology / MGI
abnormal phospholipid level / MGI
abnormal small intestine crypts of Lieberkuhn morphology / MGI
abnormal large intestine crypts of Lieberkuhn morphology / MGI
decreased ovary weight / MGI
decreased uterus weight / MGI
abnormal gallbladder morphology / MGI
abnormal gallbladder physiology / MGI
cachexia / MGI
liver/biliary system phenotype / MGI
homeostasis/metabolism phenotype / MGI
endocrine/exocrine gland phenotype / MGI
digestive/alimentary phenotype / MGI
craniofacial phenotype / MGI
respiratory system phenotype / MGI
reproductive system phenotype / MGI
abnormal alveolar macrophage morphology / MGI
decreased survivor rate / MGI
prolonged estrous cycle / MGI
absent estrous cycle / MGI
thin uterus / MGI
dilated pancreatic duct / MGI
pancreatic acinar cell atrophy / MGI
pancreatic acinar cell zymogen granule accumulation / MGI
enlarged gallbladder / MGI
dilated gallbladder / MGI
small cecum / MGI
coiled cecum / MGI
ileum hypertrophy / MGI
increased susceptibility to bacterial infection induced morbidity/mortality / MGI
abnormal intestine physiology / MGI
abnormal small intestinal crypt cell physiology / MGI
lethality, incomplete penetrance / MGI
increased respiratory mucosa goblet cell number / MGI
increased lung compliance / MGI
postnatal lethality, complete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI
preweaning lethality, complete penetrance / MGI
abnormal Brunner's gland morphology / MGI
dilated Brunner's glands / MGI
lacrimal gland atrophy / MGI
abnormal trachea gland morphology / MGI
abnormal small intestine goblet cell morphology / MGI
abnormal colon goblet cell morphology / MGI
abnormal ileal goblet cell morphology / MGI
decreased respiratory epithelial chloride transmembrane transport / MGI
abnormal submucosal gland morphology / MGI
meconium ileus / MGI
decreased small intestinal villus number / MGI
decreased respiratory epithelial sodium ion transmembrane transport / MGI
increased respiratory epithelial sodium ion transmembrane transport / MGI
decreased intestinal epithelial sodium ion transmembrane transport / MGI
decreased intestinal epithelial chloride transmembrane transport / MGI
dilated crypts of Lieberkuhn / MGI
intestinal mucus accumulation / MGI
pancreatic acinus dilation / MGI
bile duct epithelium hyperplasia / MGI

Literature references

Use of 2,6-diaminopurine as a potent suppressor of UGA premature stop codons in cystic fibrosis.;Leroy Catherine, Spelier Sacha, Essonghe Nadège Charlene, Poix Virginie, Kong Rebekah, Gizzi Patrick, Bourban Claire, Amand Séverine, Bailly Christine, Guilbert Romain, Hannebique David, Persoons Philippe, Arhant Gwenaëlle, Prévotat Anne, Reix Philippe, Hubert Dominique, Gérardin Michèle, Chamaillard Mathias, Prevarskaya Natalia, Rebuffat Sylvie, Shapovalov George, Beekman Jeffrey, Lejeune Fabrice, ;2023;Molecular therapy : the journal of the American Society of Gene Therapy;31;970-985; 36641622

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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