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Phenotypes Associated with This Genotype
Genotype
MGI:3831375
Allelic
Composition
Fgfr3tm1.1Aomw/Fgfr3tm1.1Aomw
Genetic
Background
CBA/Ca.129P2-Fgfr3tm1.1Aomw
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1.1Aomw mutation (4 available); any Fgfr3 mutation (18 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
craniofacial
• abnormalities are seen in 36% of mice (J:143356)
• there is a significant sex bias in the penetrance of craniofacial abnormalities with males more severely affected compared to females (J:144356)
• Background Sensitivity: craniofacial abnormalities are less severe on a congenic CBA/Ca background compared to mice on 129S6/SvEvTac background but more severe compared to mice on a BALB/c, congenic background (J:144356)
• most have a rounded skull
• seen in most mice
• most mice have a shortened and often twisted snout

hearing/vestibular/ear
• increased ABR threshold at all test frequencies except 33 kHz
• hearing loss is more severe in homozygotes compared to heterozygotes
• hearing loss is less severe at 32 kHz than at most lower frequencies
• Background Sensitivity: hearing loss is less severe in mice on a CBA/Ca congenic background compared to mice on a congenic 129S6/SvEvTac or C57BL/6 background

skeleton
• most have a rounded skull
• seen in most mice

growth/size/body
• most mice have a shortened and often twisted snout

Mouse Models of Human Disease
OMIM ID Ref(s)
Muenke Syndrome; MNKES 602849 J:144356


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory