Phenotypes associated with this allele

• Allele Symbol: Fign^fi
• Allele Name: fidget
• Allele ID: MGI:1856870
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fign^fi/Fign^fi	involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6	MGI:3696030
hm2	Fign^fi/Fign^fi	involves: 129S1/SvImJ * C57BL/6	MGI:3696032
hm3	Fign^fi/Fign^fi	mixed	MGI:3696039
ht4	Fign^tm1Frk/Fign^fi	involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	MGI:3842607
cx5	Fign^fi/Fign^fi Pax3^Sp/Pax3^Sp	BR.Cg-Pax3^Sp Fign^fi	MGI:3690098
cx6	Akap8^Gt(XG068)Byg/Akap8^Gt(XG068)Byg Fign^fi/Fign^fi	involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6	MGI:3696026
cx7	Akap8^Gt(XG068)Byg/Akap8^+ Fign^fi/Fign^fi	involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6	MGI:3696027
cx8	Akap8^Gt(XG068)Byg/Akap8^Gt(XG068)Byg Fign^fi/Fign^+	involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6	MGI:3696029
cx9	Fign^fi/Fign^fi Vsx2^or/Vsx2^or	involves: C57BL/Gr	MGI:5637751

Genotype
MGI:3696030

hm1

• Allelic Composition: Fign^fi/Fign^fi
• Genetic Background: involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

cleft secondary palate ( J:116474 )

• ~19% of Akap8-sufficient, Fign-deficient mice show cleft palate

digestive/alimentary system

cleft secondary palate ( J:116474 )

• ~19% of Akap8-sufficient, Fign-deficient mice show cleft palate

growth/size/body

cleft secondary palate ( J:116474 )

• ~19% of Akap8-sufficient, Fign-deficient mice show cleft palate

Genotype
MGI:3696032

hm2

• Allelic Composition: Fign^fi/Fign^fi
• Genetic Background: involves: 129S1/SvImJ * C57BL/6

craniofacial

cleft secondary palate ( J:116474 )

• some mice show complete cleft of secondary palate

digestive/alimentary system

cleft secondary palate ( J:116474 )

• some mice show complete cleft of secondary palate

growth/size/body

cleft secondary palate ( J:116474 )

• some mice show complete cleft of secondary palate

Genotype
MGI:3696039

hm3

• Allelic Composition: Fign^fi/Fign^fi
• Genetic Background: mixed

growth/size/body

abnormal mandible morphology ( J:13048 )

absent mandibular canal ( J:13048 )

• some mutants show a complete absence of the mandibular canal

absent mandibular foramen ( J:13048 )

• some mutants show a complete absence of the mandibular foramina

absent mental foramen ( J:13048 )

• some mutants show a complete absence of the mental foramina

decreased body weight ( J:13035 )

• after first 1-2 weeks, mutants weigh ~50% as much as wild-type littermates

postnatal growth retardation ( J:13035 )

• during the first 1 or 2 weeks after birth, mice exhibit lag in growth

behavior/neurological

increased startle reflex ( J:13035 )

• mutants initially display hypersensitivity to sound at 3 weeks of age

impaired coordination ( J:13035 )

• when suspended by the tail, mice exhibit violent jerking movements of their bodies without purposeful coordination

head shaking ( J:13035 )

• 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

abnormal locomotor coordination ( J:13035 )

• 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

bidirectional circling ( J:13035 )

• animals circle, but behavior is not marked as in other circling mutants such as waltzers

abnormal maternal nurturing ( J:13035 )

♀ • some females produce litters which they fail to rear

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:13048 )

N • the cochlea appears normal

N • do not turn deaf in old age

absent lateral semicircular canal ( J:13048 )

• always completely absent

absent semicircular canals ( J:13048 )

• in many animals

abnormal membranous labyrinth morphology ( J:13048 )

• the dorsal part of membranous labyrinth fails to differentiate into normal semicircular canals during embryonic development

abnormal otic capsule morphology ( J:13048 )

• missing the fenestra flocculi in the auditory capsule

increased susceptibility to age-related hearing loss ( J:13035 )

• 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

deafness ( J:13035 , J:13048 )

• 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)

immune system

eye inflammation ( J:13035 )

• blisters of the corneal epithelium are present at early ages; these burst and coalesce, sometimes forming large ulcers

conjunctivitis ( J:13035 )

• 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

vision/eye

cornea vascularization ( J:13035 )

• occurs in later stages of inflammation

Meibomian gland hypertrophy ( J:13048 )

• hypertrophy of the tarsal glands of the eyelids

absent lacrimal glands ( J:13048 )

• in both newborn and in adults

eye inflammation ( J:13035 )

• blisters of the corneal epithelium are present at early ages; these burst and coalesce, sometimes forming large ulcers

conjunctivitis ( J:13035 )

• 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

cornea opacity ( J:13035 )

• occurs in later stages, sometimes covering cornea completely

cornea perforation ( J:13048 )

• small perforation of the entire thickness of each cornea near its centre in a few mutants

small lens ( J:13048 )

• reduced in size from early stages of embryogenesis

• approximately 80% of the normal size in length

abnormal retina development ( J:5736 )

• retina matures more slowly than in wild-type

abnormal retina progenitor cell morphology ( J:5736 )

• 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

microphthalmia ( J:13048 )

• much reduced eyes from the age of 13 days onward

limbs/digits/tail

polydactyly ( J:13035 )

• 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

fused tarsal bones ( J:13048 )

• significantly higher incidence of tarsal fusions

hip dislocation ( J:13048 )

• Background Sensitivity: in some mutant mice of GFF background had a complete dislocation of the hip

reproductive system

reduced fertility ( J:13035 )

• females are sometimes sterile while others show reduced fertility

cellular

abnormal cell cycle ( J:5736 )

• 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

craniofacial

abnormal craniofacial bone morphology ( J:13048 )

• 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

absent subarcuate fossa ( J:13048 )

• missing the subarcuate fossa

abnormal pterygoid process morphology ( J:13048 )

• decreased size of the pterygoid process

abnormal mandible morphology ( J:13048 )

absent mandibular canal ( J:13048 )

• some mutants show a complete absence of the mandibular canal

absent mandibular foramen ( J:13048 )

• some mutants show a complete absence of the mandibular foramina

absent mental foramen ( J:13048 )

• some mutants show a complete absence of the mental foramina

skeleton

abnormal craniofacial bone morphology ( J:13048 )

• 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

absent subarcuate fossa ( J:13048 )

• missing the subarcuate fossa

abnormal pterygoid process morphology ( J:13048 )

• decreased size of the pterygoid process

abnormal mandible morphology ( J:13048 )

absent mandibular canal ( J:13048 )

• some mutants show a complete absence of the mandibular canal

absent mandibular foramen ( J:13048 )

• some mutants show a complete absence of the mandibular foramina

absent mental foramen ( J:13048 )

• some mutants show a complete absence of the mental foramina

fused tarsal bones ( J:13048 )

• significantly higher incidence of tarsal fusions

hip dislocation ( J:13048 )

• Background Sensitivity: in some mutant mice of GFF background had a complete dislocation of the hip

abnormal pelvic girdle bone morphology ( J:13048 )

• considerably reduced anterior iliac spine

abnormal acetabular fossa morphology ( J:13048 )

• a decrease in the depth and in the diameter of the fossa acetabuli

nervous system

abnormal cerebellar lobule formation ( J:13048 )

• the parafloccular lobe of the cerebellum becomes very abnormal in shape

endocrine/exocrine glands

Meibomian gland hypertrophy ( J:13048 )

• hypertrophy of the tarsal glands of the eyelids

absent lacrimal glands ( J:13048 )

• in both newborn and in adults

Harderian gland hypertrophy ( J:13048 )

• hypertrophy of the Harderian glands

cardiovascular system

cornea vascularization ( J:13035 )

• occurs in later stages of inflammation

integument

Meibomian gland hypertrophy ( J:13048 )

• hypertrophy of the tarsal glands of the eyelids

Genotype
MGI:3842607

ht4

• Allelic Composition: Fign^tm1Frk/Fign^fi
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

behavior/neurological

head shaking ( J:64964 )

• 7 of 14 compound heterozygotes show side-to-side head shaking, with the phenotype being less pronounced and more variable than in fidget homozygotes

hearing/vestibular/ear

abnormal semicircular canal morphology ( J:64964 )

• the horizontal semicircular canal is either missing or reduced in all compound heterozygotes

absent semicircular canals ( J:64964 )

vision/eye

microphthalmia ( J:64964 )

• 5 of 14 compound heterozygotes have at least one small eye

Genotype
MGI:3690098

cx5

• Allelic Composition: Fign^fi/Fign^fi; Pax3^Sp/Pax3^Sp
• Genetic Background: BR.Cg-Pax3^Sp Fign^fi

mortality/aging

prenatal lethality, complete penetrance ( J:11996 )

• lethality is reduced compared to mice homozygous for the Pax3 mutation alone and similar to mice homozygous for the Fign mutation alone

nervous system

open neural tube ( J:11996 )

• incidence of embryos with an open neural tube is dramatically reduced compared to mice homozygous for the Pax3 mutation alone

embryo

open neural tube ( J:11996 )

• incidence of embryos with an open neural tube is dramatically reduced compared to mice homozygous for the Pax3 mutation alone

Genotype
MGI:3696026

cx6

• Allelic Composition: Akap8^Gt(XG068)Byg/Akap8^Gt(XG068)Byg; Fign^fi/Fign^fi
• Genetic Background: involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6

Cleft palate in Akap8^Gt(XG068)Byg/Akap8^Gt(XG068)Byg Fign^fi/Fign^fi mice

mortality/aging

postnatal lethality, complete penetrance ( J:116474 )

• 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)

neonatal lethality, incomplete penetrance ( J:116474 )

• double mutants survive through birth, but ~50% die within a few hours of birth

craniofacial

cleft secondary palate ( J:116474 )

• 50% of newborns show complete cleft of the secondary palate

respiratory system

respiratory distress ( J:116474 )

• some newborns display gasping

digestive/alimentary system

cleft secondary palate ( J:116474 )

• 50% of newborns show complete cleft of the secondary palate

homeostasis/metabolism

cyanosis ( J:116474 )

• some newborns retain blue skin color (exhibit cyanosis) prior to death

growth/size/body

cleft secondary palate ( J:116474 )

• 50% of newborns show complete cleft of the secondary palate

Genotype
MGI:3696027

cx7

• Allelic Composition: Akap8^Gt(XG068)Byg/Akap8⁺; Fign^fi/Fign^fi
• Genetic Background: involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6

craniofacial

cleft secondary palate ( J:116474 )

• ~20% display cleft palate

digestive/alimentary system

cleft secondary palate ( J:116474 )

• ~20% display cleft palate

growth/size/body

cleft secondary palate ( J:116474 )

• ~20% display cleft palate

Genotype
MGI:3696029

cx8

• Allelic Composition: Akap8^Gt(XG068)Byg/Akap8^Gt(XG068)Byg; Fign^fi/Fign⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6

craniofacial

cleft secondary palate ( J:116474 )

• 2% display cleft palate

digestive/alimentary system

cleft secondary palate ( J:116474 )

• 2% display cleft palate

growth/size/body

cleft secondary palate ( J:116474 )

• 2% display cleft palate

Genotype
MGI:5637751

cx9

• Allelic Composition: Fign^fi/Fign^fi; Vsx2^or/Vsx2^or
• Genetic Background: involves: C57BL/Gr

cellular

abnormal cell cycle checkpoint function ( J:5575 )

• 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