Phenotypes associated with this allele

• Allele Symbol: Fzd3^tm1Nat
• Allele Name: targeted mutation 1, Jeremy Nathans
• Allele ID: MGI:2388632
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fzd3^tm1Nat/Fzd3^tm1Nat	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3652559
cx2	Fzd3^tm1Nat/Fzd3^+ Fzd6^tm1Nat/Fzd6^tm1Nat	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3652560
cx3	Fzd3^tm1Nat/Fzd3^tm1Nat Fzd6^tm1Nat/Fzd6^tm1Nat	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3652561

Genotype
MGI:3652559

hm1

• Allelic Composition: Fzd3^tm1Nat/Fzd3^tm1Nat
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:79213 )

• die within 30 minutes of birth

respiratory system

abnormal lung morphology ( J:79213 )

• lungs only partially inflated in mice in 100% oxygen

• lung structure normal in regions that become inflated

abnormal breathing pattern ( J:79213 )

• irregular breathing at birth

homeostasis/metabolism

cyanosis ( J:79213 )

• newborns are cyanotic in a normal atmosphere but improve in a 100% oxygen atmosphere

nervous system

incomplete rostral neuropore closure ( J:79213 )

• occurs in a small percentage of homozygotes

absent brain internal capsule ( J:86902 )

• lacks the internal capsule

abnormal telencephalon morphology ( J:79213 )

enlarged lateral ventricles ( J:79213 )

• marked enlargement of lateral ventricles by E18.5 secondary to shrinkage of striatum and thinning of cortex

• ventricle enlargement already apparent at E15 when cortex is still normal

abnormal striatum morphology ( J:79213 )

• shrinkage seen by E18

• very few fiber tracts in the striatum

• increased apoptosis at E18 but not elsewhere

decreased striatum size ( J:79213 )

• shrinkage seen by E18

thin cerebral cortex ( J:79213 )

• by E18

• thinning or complete loss of the intermediate zone

• few fiber tracts in the intermediate zone

abnormal nervous system tract morphology ( J:79213 )

• corticofugal and thalamocortical fibers almost completely absent

• disruption of tracts from the cortex to the thalamus

• tract defects are primarily in the cortex and diencephalon

decreased corpus callosum size ( J:79213 )

• variable size decrease

absent anterior commissure ( J:79213 )

• anterior commissure is absent

abnormal spinal cord morphology ( J:86902 )

• post commissural axons in the spinal cord project randomly rather than anteriorly as is normal

limbs/digits/tail

abnormal hindlimb morphology ( J:79213 )

• flexed lower limbs

curly tail ( J:79213 )

behavior/neurological

abnormal vocalization ( J:79213 )

• fail to vocalize when pinched although withdrawal reflex is normal

embryo

incomplete rostral neuropore closure ( J:79213 )

• occurs in a small percentage of homozygotes

Genotype
MGI:3652560

cx2

• Allelic Composition: Fzd3^tm1Nat/Fzd3⁺; Fzd6^tm1Nat/Fzd6^tm1Nat
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

reproductive system

oligozoospermia ( J:105752 )

♂ • 10 fold reduction in sperm count

reduced male fertility ( J:105752 )

♂

cellular

oligozoospermia ( J:105752 )

♂ • 10 fold reduction in sperm count

Genotype
MGI:3652561

cx3

• Allelic Composition: Fzd3^tm1Nat/Fzd3^tm1Nat; Fzd6^tm1Nat/Fzd6^tm1Nat
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:105752 )

• all die within minutes of birth

nervous system

open neural tube ( J:105752 )

• 100% penetrance

abnormal orientation of inner hair cell stereociliary bundles ( J:105752 )

• most severe hair bundle orientation defects in the inner hair cells

abnormal cochlear outer hair cell morphology ( J:105752 )

• less abnormality in the outer row of outer hair cells

• minimal abnormality in the inner two rows of outer hair cells

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:105752 )

N • utricle and saccule hair cells of the vestibule are more or less normal

abnormal cochlea morphology ( J:105752 )

abnormal orientation of inner hair cell stereociliary bundles ( J:105752 )

• most severe hair bundle orientation defects in the inner hair cells

abnormal cochlear outer hair cell morphology ( J:105752 )

• less abnormality in the outer row of outer hair cells

• minimal abnormality in the inner two rows of outer hair cells

abnormal tectorial membrane morphology ( J:105752 )

• underdeveloped

abnormal crista ampullaris morphology ( J:105752 )

• hair bundle orientation defects in the cristae

limbs/digits/tail

curly tail ( J:105752 )

vision/eye

eyelids open at birth ( J:105752 )

• in about 10% of mice, eyelids fail to fuse

embryo

open neural tube ( J:105752 )

• 100% penetrance