Phenotypes associated with this allele

• Allele Symbol: Fgf3^tm1Mrc
• Allele Name: targeted mutation 1, Mario R Capecchi
• Allele ID: MGI:1931059
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgf3^tm1Mrc/Fgf3^tm1Mrc	involves: 129S7/SvEvBrd	MGI:3662762
hm2	Fgf3^tm1Mrc/Fgf3^tm1Mrc	involves: 129S7/SvEvBrd * C57BL/6	MGI:3662734
ht3	Fgf3^tm1Mrc/Fgf3^tm1.1Sms	involves: 129S1/Sv * 129S4/SvJaeSor * 129S7/SvEvBrd * 129X1/SvJ * BALB/cJ	MGI:4456409
cx4	Fgf3^tm1Mrc/Fgf3^tm1Mrc Fgf10^tm1Wss/Fgf10^tm1Wss	involves: 129S7/SvEvBrd * 129X1/SvJ	MGI:3662759
cx5	Fgf3^tm1Mrc/Fgf3^tm1Mrc Fgf10^tm1Wss/Fgf10^+	involves: 129S7/SvEvBrd * 129X1/SvJ	MGI:3662760
cx6	Fgf3^tm1Mrc/Fgf3^+ Fgf10^tm1Wss/Fgf10^tm1Wss	involves: 129S7/SvEvBrd * 129X1/SvJ	MGI:3662761

Genotype
MGI:3662762

hm1

• Allelic Composition: Fgf3^tm1Mrc/Fgf3^tm1Mrc
• Genetic Background: involves: 129S7/SvEvBrd

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

hearing/vestibular/ear

abnormal otic vesicle development ( J:83659 )

• otic vesicles are more ventrally localized than in controls

Genotype
MGI:3662734

hm2

• Allelic Composition: Fgf3^tm1Mrc/Fgf3^tm1Mrc
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

mortality/aging

neonatal lethality, incomplete penetrance ( J:4501 )

• 5 of 23 were found dead within 24 hours of birth

postnatal lethality, incomplete penetrance ( J:4501 , J:128377 )

• 11 of 23 pups lived for less than 2 days (including those dying within 24 hours of birth) (J:4501)

• 7 of 23 pups (30%) lived for between 2 days and 3 weeks and 22% survive to weaning (J:4501)

• at weaning, only 10% of heterozygous intercross offspring were homozygous mutant, indicating significant lethality associated with this allele (J:128377)

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:4501 )

• the first 4 to 7 caudal vertebrae are normal, however the rest show abnormally shaped and/or fused vertebrae that have not begun to ossify

• pattern of fusions and malformations is different in each mutant mouse

caudal vertebral fusion ( J:4501 )

decreased caudal vertebrae number ( J:4501 )

• number of caudal vertebral units varies from 9 to 23 compared to the normal 29

short tail ( J:4501 , J:128377 )

curly tail ( J:4501 , J:128377 )

kinked tail ( J:4501 )

hearing/vestibular/ear

abnormal inner ear morphology ( J:4501 )

• exhibit varied penetrance of and both asymmetric (6 of 14) and symmetric (5 of 14) inner ear defects; some mutants show normal inner ears (2 of 14)

• develop hydrops (distention) of the inner ear

abnormal cochlea morphology ( J:4501 )

• cochlea appears to be improperly coiled

decreased cochlea coiling ( J:128377 )

• the swollen cochlear duct showed incomplete partition and poor coiling

abnormal semicircular canal morphology ( J:4501 )

• semicircular canals are enlarged

absent common crus ( J:128377 )

absent posterior semicircular canal ( J:4501 , J:128377 )

• the posterior semicircular canal is missing or greatly reduced (J:4501)

• absence or severe truncation of the anterior and posterior semicircular canals in some (J:128377)

absent superior semicircular canal ( J:128377 )

• absence or severe truncation of the anterior and posterior semicircular canals in some

abnormal inner ear vestibule morphology ( J:4501 )

• distension of the vestibular portions of the E15.5 ear

• the utricle and saccule show no signs of a division into two parts at E15.5

abnormal membranous labyrinth morphology ( J:4501 , J:128377 )

• all affected mutant ears had a distended membranous labyrinth (J:128377)

abnormal scala media morphology ( J:4501 )

• cochlear duct is not a neatly coiled tube but instead, a distended sac

dilated scala media ( J:128377 )

abnormal utricle morphology ( J:128377 )

• fusion of utricle and saccule

abnormal vestibular saccule morphology ( J:128377 )

• fusion of utricle and saccule

absent endolymphatic duct ( J:4501 )

• endolymphatic duct is severely reduced in size by E11.5 and is missing at E13.5

absent endolymphatic sac ( J:4501 , J:128377 )

• lack an endolymphatic sac at E13.5 (J:4501)

short endolymphatic duct ( J:128377 )

behavior/neurological

absent pinna reflex ( J:4501 )

♀ • a female surviving past the postnatal period has little tendency to startle in response to an unseen hand clap (Preyer's reflex)

impaired righting response ( J:4501 )

♀ • females surviving past the postnatal period have difficulty righting themselves when placed on their backs, however show improvement by 5 weeks of age compared to at 3 weeks of age

decreased startle reflex ( J:4501 )

♀ • a female surviving past the postnatal period shows little or no ear movement in response to clicking noises from behind and has little tendency to startle in response to an unseen hand clap (Preyer's reflex)

head tilt ( J:4501 )

• head is tilted consistently to the right in females that survive past the postnatal period

hyperactivity ( J:4501 )

♀ • seen in females that survive past the postnatal period

circling ( J:4501 )

♀ • seen in females that survive past the postnatal period

embryo

embryonic growth retardation ( J:4501 )

• embryos appear to be developmentally younger than controls at E12.5

decreased embryo size ( J:4501 )

• smaller starting at E12.5

abnormal neural tube morphology ( J:4501 )

• tails show an abnormally large neural tube, especially in the most caudal regions

abnormal somite development ( J:4501 )

• tails at E11.5 show disorganized somites with no clear demarcation between left and right sides and in some mutants, somite blocks appear to form on top of each other

growth/size/body

embryonic growth retardation ( J:4501 )

• embryos appear to be developmentally younger than controls at E12.5

decreased embryo size ( J:4501 )

• smaller starting at E12.5

nervous system

abnormal neural tube morphology ( J:4501 )

• tails show an abnormally large neural tube, especially in the most caudal regions

abnormal vestibulocochlear ganglion morphology ( J:4501 )

• the VII-VIIIth (facio-acoustic) ganglion is smaller at E10.5

cochlear ganglion hypoplasia ( J:4501 )

• spiral ganglion neurons that normally innervate the cochlear hair cells are severerly reduced in number

skeleton

abnormal caudal vertebrae morphology ( J:4501 )

• the first 4 to 7 caudal vertebrae are normal, however the rest show abnormally shaped and/or fused vertebrae that have not begun to ossify

• pattern of fusions and malformations is different in each mutant mouse

caudal vertebral fusion ( J:4501 )

decreased caudal vertebrae number ( J:4501 )

• number of caudal vertebral units varies from 9 to 23 compared to the normal 29

Genotype
MGI:4456409

ht3

• Allelic Composition: Fgf3^tm1Mrc/Fgf3^tm1.1Sms
• Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129S7/SvEvBrd * 129X1/SvJ * BALB/cJ

embryo

abnormal embryo development ( J:160254 )

• authors state that mice are indistinguishable from mice homozygous for other Fgf3 null alleles

hearing/vestibular/ear

abnormal ear morphology ( J:160254 )

• authors state that mice are indistinguishable from mice homozygous for other Fgf3 null alleles

Genotype
MGI:3662759

cx4

• Allelic Composition: Fgf3^tm1Mrc/Fgf3^tm1Mrc; Fgf10^tm1Wss/Fgf10^tm1Wss
• Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ

hearing/vestibular/ear

absent otic vesicle ( J:83659 )

• embryos either have a unilateral microvesicle or lack any sign of otic vesicle formation

absent inner ear ( J:83659 )

• otic development arrests prior to invagination of the otic cup to form the otic vesicle

limbs/digits/tail

absent limbs ( J:83659 )

short tail ( J:83659 )

curly tail ( J:83659 )

• E10.5 embryos have short dorsally curved tails

Genotype
MGI:3662760

cx5

• Allelic Composition: Fgf3^tm1Mrc/Fgf3^tm1Mrc; Fgf10^tm1Wss/Fgf10⁺
• Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ

hearing/vestibular/ear

abnormal otic vesicle development ( J:83659 )

• otic vesicles are more ventrally localized than in controls

small otic vesicle ( J:83659 )

• small otic vesicles at E9.5; phenotype is more severe than in mutants homozygous for Fgf10 and heterozygous for Fgf3

Genotype
MGI:3662761

cx6

• Allelic Composition: Fgf3^tm1Mrc/Fgf3⁺; Fgf10^tm1Wss/Fgf10^tm1Wss
• Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ

hearing/vestibular/ear

small otic vesicle ( J:83659 )

• small otic vesicles at E9.5; phenotype is not as severe as in mutants homozygous for Fgf3 and heterozygous for Fgf10