Instability of the insertional mutation in CftrTgH(neoim)Hgu cystic fibrosis mouse model

BMC Genetics

Volumn 5, Issue , 2004, Pages

  Charizopoulou, Nikoletta ^a   Jansen, Silke ^a   Dorsch, Martina ^a   Stanke, Frauke ^a   Dorin, Julia R ^b   Hedrich, Hans Jürgen ^a   Tümmler, Burkhard ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MUTANT PROTEIN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ANIMAL MODEL; ARTICLE; BACKCROSSING; BREEDING; CONGENIC STRAIN; CONTROLLED STUDY; CYSTIC FIBROSIS; EXCISION; EXPRESSION VECTOR; GENE DISRUPTION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; GERM LINE; HAPLOTYPE; HETEROZYGOTE; INBRED STRAIN; INTROGRESSION; MATING SYSTEM; MICROSATELLITE INSTABILITY; MICROSATELLITE MARKER; MONITORING; MOUSE; MOUSE STRAIN; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RECIPIENT; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; WILD TYPE;

ANIMALS; CROSSES, GENETIC; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DISEASE MODELS, ANIMAL; FEMALE; GENE FREQUENCY; GENOTYPE; GERM-LINE MUTATION; HAPLOTYPES; MALE; MICE; MICE, CONGENIC; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, INBRED DBA; MICROSATELLITE REPEATS; MUTAGENESIS, INSERTIONAL; MUTATION;

ANIMALIA; INSERTION SEQUENCES; RAPHIA FRATER;

EID: 2442715153     PISSN: 14712156     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2156-5-6     Document Type: Article

References (26)

1. Tata F, Stanier P, Wicking C, Halford S, Kruyer H, Lench NJ, Scambler PJ, Hansen C, Braman JC, Williamson R, Wainwright BJ: Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene. Genomics 1991, 10:301-307.
2. Colledge WH, Abella BS, Southert KW, Ratcliff R, Jiang C, Cheng SH, MacVinish LJ, Anderson JR, Cuthbert AW, Evans MJ: Generation and characterisation of a DeltaF508 cystic fibrosis mouse model. Nat Genet 1995, 10:445-452.
3. van Doorninck JH, French PJ, Verbeek E, Peters RHPC, Monrreau H, Bijman J, Scholte BJ: A mouse model for the cystic fibrosis deltaF508 mutation. EMBO J 1995, 14(18):4403-4411.
4. Zeiher BG, Eichwald E, Zabner J, Smith JJ, Puga AP, McGray PB, Capecchi MR, Welsh MJ, Thomas KR: A mouse model for the deltaF508 allele of cystic fibrosis. J Clin Invest 1995, 96:2051-2064.
5. Delaney SJ, Alton EWFW, Smith SN, Lunn DP, Farley R, Lovelock PK, Thomson SA, Hume DA, Lamp D, Porteous DJ, Dorin JR, Wainwright BJ: Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. EMBO J 1996, 15:955-963.
6. Dickinson P, Smith SN, Webb S, Kilanowski FM, Campbell IJ, Taylor MS, Porteous DJ, Willemsen R, de Jonge HR, Farley R, Alton EWFW, Dorin JR: The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics. Human Molecular Genetics 2002, 11(3):243-51.
7. Kent G, Iles R, Bear CE, Huan LJ, Griesenbach U, McKerlie C, Frndova H, Ackerley C, Gosselin D, Radzioch D, O'Brodovich H, Tsui LC, Buchwald M, Tanswell AK: Lung disease in mice with cystic fibrosis. J Clin Invest 1997, 100:3060-3069.
8. Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W, Moore A, Fostner J, Durie P, Nadeau J, Bear C, Tsui L-C: Modulation of disease severity in cystic fibrosis transmembranen regulator deficient mice by a secondary genetic factor. Nature Genetics 1996, 12:280-287.
9. Haston CK, Corey M, Tsui L-C: Mapping of genetic factors influencing the weight of cystic fibrosis knockout mice. Mammalian Genome 2002, 13:614-618.
10. Haston CK, McKerlie C, Newbigging S, Corey M, Rozmahel R, Tsui LC: Detection of modifier loci influencing the lung phenotype of cystic fibrosis knockout mice. Mammalian Genome 2002, 13:605-613.
11. Haston CK, Tsui L-C: Loci of intestinal distress in cystic fibrosis knockout mice. Physiol Genomics 2002, 12:79-84.
12. Dorin JR, Dickinson P, Alton EWFW, Smith N, Geddes DM, Stevenson BJ, Kimber WL, Fleming S, Clarke AR, Hooper ML., Anderson L, Beddington RSP, Porteous DJ: Cystic fibrosis in the mouse by targeted insertional mutagenesis. Nature 1992, 359:211-215.
13. Dorin JR, Stevenson BJ, Fleming S, Alton EWFW, Dickinson P, Porteous DJ: Long term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression. Mammalian Genome 1994, 5:465-472.
14. Smith SN, Steel DM, Middleton PG, Munkonge FM, Geddes DM, Caplen NJ, Porteous DJ, Dorin JR, Alton EWFW: Bioelectric characteristics of exon 10 insertional cystic fibrosis mouse: comparison with humans. Am J Physiol 1995, 268:C297-C307.
15. Cuppens H, Lin W, Jaspers M, Costes B, Teng H, Vankeerberhen A, Jorissen M, Droogmans G, Reynaert I, Goosens M, Nilius B, Cassiman J-J: Polyvariant Mutant Cystic Fibrosis Transmembrane Conductance Regulator Genes. J Clin Invest 1998, 101(2):487-496.
16. Corrette-Bennett SE, Mohlman NL, Rosado Z, Miret JJ, Hess PM, Parker BO, Lahue RS: Efficient repair of large DNA loops in Saccharomyces cerevisiae. Nucleic Acids Research 2001, 29(20):4134-4143.
17. Fang W-H, Wang B-J, Wang C-H, Lee S-J, Chang Y-T, Chuang Y-K, Lee C-N: DNA Loop repair by E coli Cell extracts. The Journal of Biological Chemistry 2003, 278(25):22446-22452.
18. McCulloch SD, Gu L, Li G-M: Bi-directional processing of DNA loops by mismatch repair-dependent and -independent pathways in human cells. The Journal of Biological Chemistry 2003, 278(6):3891-3896.
19. Kearney HM, Kirkpatrick DT, Gerton JL, Petes TD: Meiotic recombination involving heterozygous large insertions in S cerevisiae: Formation and repair of large unpaired loops. Genetics 2001, 158:1457-1476.
20. Clikeman JA, Wheeler SL, Nickoloff JA: Efficient incorporation of large (>2 kb) heterologies into heteroduplex DNA:Pmsl/Msh2-dependent and -independent large loop mismatch repair in S.cerevisiae. Genetics 2001, 157:1481-1491.
21. Dickinson P, Kimber WL, Kilanowski FM, Stevenson BJ, Porteous DJ, Dorin JR: High frequency gene targeting using insertional vectors. Human Molecular Genetics 1993, 2(8):1299-1302.
22. Scott L, LaFoe D, Weil CL: Adjacent sequences influence DNA repair accompanying transposon excision in maize. Genetics 1996, 142:237-246.
23. Wakeland E, Morel L, Achey K, Yui M, Longmate J: Speed congenics: a classic teqnique in the fast lane (relatively speaking). Immunol Today 1997, 18(10):472-7.
24. Visscher PM: Speed congenics: accelerate genome recovery using genetic markers. Genet Res 1999, 74(1):81-85.
25. Gross-Bellard M, Dudet P, Chambon P: Isolation of high molecular weight DNA from mammalian cells. Eur J Biochem 1973, 36:32-38.
26. Mekus F, Dörk T, Deufel T, Tümmler B: Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection. Electrophoresis 1995, 16:1886-1888.