Phenotypes associated with this allele
Allelic Composition |
Fignfi/Fignfi
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Genetic Background |
involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6 |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fignfi mutation
(2 available);
any
Fign mutation
(39 available)
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craniofacial
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• ~19% of Akap8-sufficient, Fign-deficient mice show cleft palate
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digestive/alimentary system
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• ~19% of Akap8-sufficient, Fign-deficient mice show cleft palate
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growth/size/body
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• ~19% of Akap8-sufficient, Fign-deficient mice show cleft palate
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Allelic Composition |
Fignfi/Fignfi
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Genetic Background |
involves: 129S1/SvImJ * C57BL/6 |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fignfi mutation
(2 available);
any
Fign mutation
(39 available)
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craniofacial
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• some mice show complete cleft of secondary palate
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digestive/alimentary system
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• some mice show complete cleft of secondary palate
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growth/size/body
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• some mice show complete cleft of secondary palate
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fignfi mutation
(2 available);
any
Fign mutation
(39 available)
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growth/size/body
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• after first 1-2 weeks, mutants weigh ~50% as much as wild-type littermates
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• during the first 1 or 2 weeks after birth, mice exhibit lag in growth
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behavior/neurological
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• mutants initially display hypersensitivity to sound at 3 weeks of age
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• when suspended by the tail, mice exhibit violent jerking movements of their bodies without purposeful coordination
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• affected mice shake their heads from side to side, from a few times to many times in rapid succession, starting as early as 3-4 days after birth; excursions are small
• shaking is most marked when mouse is active and ambulatory; movements tend to decrease when animal is quiet
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• when suspended by the tail, mice exhibit violent jerking movements of their bodies without purposeful coordination
• when placed in water, mice appear to lose all sense of direction and begin to gyrate frantically
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• animals circle, but behavior is not marked as in other circling mutants such as waltzers
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• some females produce litters which they fail to rear
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hearing/vestibular/ear
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• the cochlea appears normal
• do not turn deaf in old age
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• always completely absent
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• the dorsal part of membranous labyrinth fails to differentiate into normal semicircular canals during embryonic development
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• missing the fenestra flocculi in the auditory capsule
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• mutants initially display hypersensitivity to sound at 3 weeks of age, but this is followed by a period where they respond to only drastic stimuli
• from 3-4 months of age onward, no response to auditory stimuli is observed
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• from 3-4 months of age, mice have severe hearing loss or are completely deaf
(J:13035)
• in subsequent analysis, it was shown that an auditory response could be elicited even in very old mutant mice
(J:13048)
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immune system
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• blisters of the corneal epithelium are present at early ages; these burst and coalesce, sometimes forming large ulcers
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• after birth once the eyes have opened, discharge from the conjunctiva occurs, such that the eyelids stick together; one or both eyes are closed in affected animals for much of their lives
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vision/eye
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• occurs in later stages of inflammation
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• hypertrophy of the tarsal glands of the eyelids
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• in both newborn and in adults
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• blisters of the corneal epithelium are present at early ages; these burst and coalesce, sometimes forming large ulcers
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• after birth once the eyes have opened, discharge from the conjunctiva occurs, such that the eyelids stick together; one or both eyes are closed in affected animals for much of their lives
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• small perforation of the entire thickness of each cornea near its centre in a few mutants
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• occurs in later stages, sometimes covering cornea completely
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• reduced in size from early stages of embryogenesis
• approximately 80% of the normal size in length
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• retina matures more slowly than in wild-type
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• cells in the retinal anlage do not begin transition to differentiated state in general nuclear layer until E12, whereas wild-type cells start transition at E11
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• much reduced eyes from the age of 13 days onward
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limbs/digits/tail
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• usually involving first digit of hindlimbs, observed in small subset of animals
• occasionally only doubling of distal pad of toe, with or without claw occurs; in some cases, extra toe is completely separated from original and larger in size
• doubling of digits tends to disappear with growth
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• significantly higher incidence of tarsal fusions
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• Background Sensitivity: in some mutant mice of GFF background had a complete dislocation of the hip
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reproductive system
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• females are sometimes sterile while others show reduced fertility
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cellular
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• generation time (T) of retinal cells is longer (20 hours) than in wild-type (18 hours); cell cycle duration is increased 2 hours in mutants
• duration of S phase is 8.5 hours compared to 9.75 in wild-type; M phase is shorter (8.5 hours) than in wild-type (9.25 hours
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craniofacial
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• decreased size of the pterygoid process and the incidence of the foramen sphenoidale medium
• presphenoid-basisphenoid fusion in some
• parieto-squamosal fusion in some
• interfrontal-frontal fusion in some
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• missing the subarcuate fossa
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• decreased size of the pterygoid process
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• some mutants show a complete absence of the mandibular canal
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• some mutants show a complete absence of the mandibular foramina
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• some mutants show a complete absence of the mental foramina
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skeleton
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• decreased size of the pterygoid process and the incidence of the foramen sphenoidale medium
• presphenoid-basisphenoid fusion in some
• parieto-squamosal fusion in some
• interfrontal-frontal fusion in some
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• missing the subarcuate fossa
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• decreased size of the pterygoid process
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• some mutants show a complete absence of the mandibular canal
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• some mutants show a complete absence of the mandibular foramina
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• some mutants show a complete absence of the mental foramina
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• significantly higher incidence of tarsal fusions
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• Background Sensitivity: in some mutant mice of GFF background had a complete dislocation of the hip
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• considerably reduced anterior iliac spine
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• a decrease in the depth and in the diameter of the fossa acetabuli
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nervous system
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• the parafloccular lobe of the cerebellum becomes very abnormal in shape
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endocrine/exocrine glands
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• hypertrophy of the tarsal glands of the eyelids
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• in both newborn and in adults
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• hypertrophy of the Harderian glands
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cardiovascular system
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• occurs in later stages of inflammation
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integument
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• hypertrophy of the tarsal glands of the eyelids
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Allelic Composition |
Figntm1Frk/Fignfi
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Genetic Background |
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J |
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behavior/neurological
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• 7 of 14 compound heterozygotes show side-to-side head shaking, with the phenotype being less pronounced and more variable than in fidget homozygotes
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hearing/vestibular/ear
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• the horizontal semicircular canal is either missing or reduced in all compound heterozygotes
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vision/eye
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• 5 of 14 compound heterozygotes have at least one small eye
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mortality/aging
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• lethality is reduced compared to mice homozygous for the Pax3 mutation alone and similar to mice homozygous for the Fign mutation alone
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nervous system
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• incidence of embryos with an open neural tube is dramatically reduced compared to mice homozygous for the Pax3 mutation alone
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embryo
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• incidence of embryos with an open neural tube is dramatically reduced compared to mice homozygous for the Pax3 mutation alone
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akap8Gt(XG068)Byg mutation
(0 available);
any
Akap8 mutation
(44 available)
Fignfi mutation
(2 available);
any
Fign mutation
(39 available)
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Cleft palate in Akap8Gt(XG068)Byg/Akap8Gt(XG068)Byg Fignfi/Fignfi mice
mortality/aging
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• double mutants survive through birth, but ~50% die within a few hours of birth
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• surviving mutants are generally smaller than littermates, do not nurse well, and gradually die prior to weaning, with very few surviving to 3 weeks (3/258)
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craniofacial
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• 50% of newborns show complete cleft of the secondary palate
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respiratory system
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• some newborns display gasping
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digestive/alimentary system
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• 50% of newborns show complete cleft of the secondary palate
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homeostasis/metabolism
growth/size/body
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• 50% of newborns show complete cleft of the secondary palate
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akap8Gt(XG068)Byg mutation
(0 available);
any
Akap8 mutation
(44 available)
Fignfi mutation
(2 available);
any
Fign mutation
(39 available)
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craniofacial
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• ~20% display cleft palate
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digestive/alimentary system
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• ~20% display cleft palate
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growth/size/body
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• ~20% display cleft palate
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Akap8Gt(XG068)Byg mutation
(0 available);
any
Akap8 mutation
(44 available)
Fignfi mutation
(2 available);
any
Fign mutation
(39 available)
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craniofacial
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• 2% display cleft palate
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digestive/alimentary system
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• 2% display cleft palate
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growth/size/body
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• 2% display cleft palate
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fignfi mutation
(2 available);
any
Fign mutation
(39 available)
Vsx2or mutation
(0 available);
any
Vsx2 mutation
(23 available)
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cellular
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• tritium labelling shows that DNA synthesis is stopped in retinal anlage of E12 mutant mice of this doubly homozygous genotype whereas G1 is prolonged in the retina anlage of E12 mutant mice homozygous for individual genotypes
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