ArticleMammalian genome : official journal of the International Mammalian Genome Society2011
A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 18 citations in OpenAlex.
- Uncovering the secreted signals and transcription factors regulating the development of mammalian middle ear ossicles.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Review
- FGF/FGFR signaling in health and disease.Signal transduction and targeted therapy · 2020Review
- An Essential Requirement forFrontiers in cell and developmental biology · 2020Article
- A requirement for Fgfr2 in middle ear development.Genesis (New York, N.Y. : 2000) · 2019Article
- Dissection of the Auditory Bulla in Postnatal Mice: Isolation of the Middle Ear Bones and Histological Analysis.Journal of visualized experiments : JoVE · 2017Article
- Genetic insights into the mechanisms of Fgf signaling.Genes & development · 2016Review
- The development of the mammalian outer and middle ear.Journal of anatomy · 2016Review
- Fgfr1 regulates development through the combinatorial use of signaling proteins.Genes & development · 2015Article
- What have we learned from murine models of otitis media?Current allergy and asthma reports · 2013Review
- Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Article
- Thyroid hormone receptors control developmental maturation of the middle ear and the size of the ossicular bones.Endocrinology · 2012Article
- Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.Hearing research · 2011Article
- Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice.Genome biology · 2011Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
The hush puppy mouse mutant has been shown previously to have skull and outer, middle, and inner ear defects, and an increase in hearing threshold. The fibroblast growth factor receptor 1 (Fgfr1) gene is located in the region of chromosome 8 containing the mutation. Sequencing of the gene in hush puppy heterozygotes revealed a missense mutation in the kinase domain of the protein (W691R). Homozygotes were found to die during development, at approximately embryonic day 8.5, and displayed a phenotype similar to null mutants. Reverse transcription PCR indicated a decrease in Fgfr1 transcript in heterozygotes and homozygotes. Generation of a construct containing the mutation allowed the function of the mutated receptor to be studied. Immunocytochemistry showed that the mutant receptor protein was present at the cell membrane, suggesting normal expression and trafficking. Measurements of changes in intracellular calcium concentration showed that the mutated receptor could not activate the IP(3) pathway, in contrast to the wild-type receptor, nor could it initiate activation of the Ras/MAP kinase pathway. Thus, the hush puppy mutation in fibroblast growth factor receptor 1 appears to cause a loss of receptor function. The mutant protein appears to have a dominant negative effect, which could be due to it dimerising with the wild-type protein and inhibiting its activity, thus further reducing the levels of functional protein. A dominant modifier, Mhspy, which reduces the effect of the hush puppy mutation on pinna and stapes development, has been mapped to the distal end of chromosome 7 and may show imprinting.
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