Cftr^tm1Hgu
Targeted Allele Detail

Summary

• Symbol: Cftr^tm1Hgu
• Name: cystic fibrosis transmembrane conductance regulator; targeted mutation 1, MRC Human Genetics Unit
• MGI ID: MGI:1856710
• Synonyms: cf, cftr^m1HGU, Cftr^m1Hgu, Cftr^{TgH(neoim)1Hgu}, Cftr^{TgH(neoim)Hgu}, EDI
• Gene: Cftr Location: Chr6:18170686-18322767 bp, + strand Genetic Position: Chr6, 8.1 cM, cytoband A3
• Alliance: Cftr^tm1Hgu page

Generation 27 and 28 Cftr^tm1Hgu/Cftr^tm1Hgu mice exhibit focal hypertrophy of goblet cells

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:14614
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: An insertion of a vector into intron 9 that included exon 10 interrupted by a neomycin selection gene. RT-PCR analysis on tissues derived from homozygous mice demonstrated that a low level of wild-type transcript was produced from this allele by exon skipping (J:20037). (J:14614, J:20037)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Cftr^tm1Hgu/Cftr^tm1Hgu	CF/1Ztm
hm2	Cftr^tm1Hgu/Cftr^tm1Hgu	CF/3Ztm
hm3  Disease Model	Cftr^tm1Hgu/Cftr^tm1Hgu	involves: 129P2/OlaHsd
hm4  Disease Model	Cftr^tm1Hgu/Cftr^tm1Hgu	involves: 129P2/OlaHsd * MF1

Phenotypes:

Affected Systems	hm1	hm2	hm3	hm4
show or hide all annotated terms Sex:
cellular	√	√
abnormal ileal goblet cell morphology	√	√
digestive/alimentary system	√	√		√	√
abnormal ileal goblet cell morphology	√	√
abnormal colon morphology				√	√
intestinal obstruction	√	√
meconium ileus				√	√
decreased intestinal epithelial chloride transmembrane transport				√	√
immune system			√
lung inflammation			√
increased susceptibility to bacterial infection			√
mortality/aging	√	√		√	√
lethality, incomplete penetrance	√	√
postnatal lethality, incomplete penetrance				√	√
reproductive system	N	N			√
reproductive system phenotype	N	N
abnormal vas deferens morphology					√
respiratory system			√	√	√
respiratory system phenotype			N
lung inflammation			√
abnormal lung morphology			√
atelectasis				√	√
increased respiratory mucosa goblet cell number			√
decreased respiratory epithelial chloride transmembrane transport				√	√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	hm3	hm4
cystic fibrosis IDs cystic fibrosis       DOID:1485 DOID:12447 DOID:13383 DOID:14395 DOID:1484 ICD10CM:E84 ICD9CM:277.0 MESH:D003550 NCI:C2975 OMIM:219700 ORDO:586 UMLS_CUI:C0010674 Close	√	√

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Cftr Mutation: 99 strains or lines available

References

• Original: J:14614 Dorin JR, et al., Cystic fibrosis in the mouse by targeted insertional mutagenesis [see comments]. Nature. 1992 Sep 17;359(6392):211-5
• All: 28 reference(s)