Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Macf1tm1Efu mutation
(1 available);
any
Macf1 mutation
(853 available)
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vision/eye
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• mice injected subretinally with an adenovirus-expressing cre recombinase under the control of the rhodopsin kinase promotor (ad-cre) at 3 months of age show upregulation of GFAP in photoreceptors and apoptotic photoreceptors, indicating degeneration
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• inner segments show a loss of basal body anchoring at the connecting cilium in mice injected with ad-cre
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• outer nuclear layer thinning is seen in mice injected with ad-cre
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• mice injected subretinally with ad-cre at 3 months of age show decreased ERG a- and b-waves under dark-adapted conditions
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nervous system
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• mice injected subretinally with an adenovirus-expressing cre recombinase under the control of the rhodopsin kinase promotor (ad-cre) at 3 months of age show upregulation of GFAP in photoreceptors and apoptotic photoreceptors, indicating degeneration
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Macf1tm1Efu mutation
(1 available);
any
Macf1 mutation
(853 available)
Tg(KRT14-cre)1Efu mutation
(0 available)
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homeostasis/metabolism
integument
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• keratinocytes exhibit stronger focal adhesions in culture than wild-type cells
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• during an in vitro wound healing assay, keratinocyte move only 20% of the distance into the gap unlike wild-type cells
• keratinocytes, in culture, exhibit a 60% decrease in average migration speed on fibronectin compared to wild-type cells
• rates of proliferation and apoptosis are normal, and reducing the underlying matrix protein in culture can restore migration speeds to normal
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cellular
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• keratinocytes exhibit stronger focal adhesions in culture than wild-type cells
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• during an in vitro wound healing assay, keratinocyte move only 20% of the distance into the gap unlike wild-type cells
• keratinocytes, in culture, exhibit a 60% decrease in average migration speed on fibronectin compared to wild-type cells
• rates of proliferation and apoptosis are normal, and reducing the underlying matrix protein in culture can restore migration speeds to normal
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Macf1tm1Efu mutation
(1 available);
any
Macf1 mutation
(853 available)
Tg(rx3-icre)1Mjam mutation
(0 available)
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vision/eye
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• 6 week old mice show retinal dysplasia predominately affecting the outer retina with disruption of retinal lamination
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• inner segments are lost
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• outer segments are lost
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• mice show decreased ERG a- and b-waves under dark-adapted conditions
• mice show severely decreased response to a 10-Hz flicker test
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• amplitude of dark adapted a-wave is decreased
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• amplitudes of dark adapted and light adapted b-wave are decreased
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nervous system
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• slightly enlarged ventricles at 3 months
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• inner segments are lost
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• outer segments are lost
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Macf1tm1Efu mutation
(1 available);
any
Macf1 mutation
(853 available)
Tg(Six3-cre)69Frty mutation
(2 available)
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vision/eye
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• severe retinal dysplasia, predominately affecting the photoreceptor layer
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• bipolar cell disorganization is seen at P10, with some cell bodies interspersed with photoreceptors, and becomes more severe at P21
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• apicobasal polarity of developing photoreceptors is disrupted as indicated by a failure of ciliary rootlets to align along the apical margin of the retina and marker analysis
• basal bodies are displaced throughout the developing neuroblast layer as early as P0
• majority of basal bodies lack a docked ciliary vesicle, indicating inhibited ciliogenesis
• dividing cells are frequently seen ectopically in the mid-neuroblast layer
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• separation of the inner nuclear layer and outer nuclear layer is disrupted at P5 and by P10, the outer nuclear layer is split and fragmented
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• disruption of the outer retina lamination is seen at P5 but not P0
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• ciliary rootlets are scattered throughout all retinal layers and the connecting cilium is absent at P5
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• inner segment is absent at maturity
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• outer segment is absent at maturity
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• ERG a- and b-waves are absent in both dark- and light-adapted mice at 6 weeks of age, indicating loss of both rod and cone function
• mice are non-responsive to a 10-Hz flicker test
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• amplitude of dark adapted a-wave is decreased
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• amplitudes of dark adapted and light adapted b-wave are abolished
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• b-waves are absent in both dark- and light-adapted mice
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nervous system
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• ciliary rootlets are scattered throughout all retinal layers and the connecting cilium is absent at P5
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• bipolar cell disorganization is seen at P10, with some cell bodies interspersed with photoreceptors, and becomes more severe at P21
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• inner segment is absent at maturity
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• outer segment is absent at maturity
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cellular
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• ciliary rootlets are scattered throughout all retinal layers and the connecting cilium is absent at P5
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