Fgfr1tm2.1Cxd
Targeted Allele Detail
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Symbol: |
Fgfr1tm2.1Cxd |
Name: |
fibroblast growth factor receptor 1; targeted mutation 2.1, Chu-Xia Deng |
MGI ID: |
MGI:2153355 |
Synonyms: |
Fgfr1250, Fgfr1P250R |
Gene: |
Fgfr1 Location: Chr8:26008808-26067819 bp, + strand Genetic Position: Chr8, 14.12 cM
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Alliance: |
Fgfr1tm2.1Cxd page
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Germline Transmission: |
Earliest citation of germline transmission:
J:63959
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Parent Cell Line: |
TC1/TC-1 (ES Cell)
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Strain of Origin: |
129S6/SvEvTac
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Single point mutation
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Mutation details: Derivative of Fgfr1tm2Cxd. A point mutation was introduced into exon 7 that altered codon 250 from one encoding proline to one encoding arginine (P250R). This mutation corresponds to a known human mutation in this gene that is a cause of Pfeiffer syndrome. A loxP flanked neomycin cassette in intron 6 was removed via Cre mediated recombination leaving one loxP site.
(J:63959)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Fgfr1 Mutation: |
221 strains or lines available
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Original: |
J:63959 Zhou YX, et al., A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. Hum Mol Genet. 2000 Aug 12;9(13):2001-8 |
All: |
2 reference(s) |
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