Mouse Genome Informatics
hm
    Fgfr3tm1.1Aomw/Fgfr3tm1.1Aomw
CBA/Ca.129P2-Fgfr3tm1.1Aomw
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
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 IDRef(s)
Muenke Syndrome; MNKES 602849 J:144356