Mouse Genome Informatics
hm
    Fras1bl/Fras1bl
involves: 101/H * C3H/HeH
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• most homozygotes die before birth
• however, a few reach adulthood with no signs of skin blistering

limbs/digits/tail
• adult homozygotes exhibit distal limb defects, such as syndactyly of the hindlimbs
• homozygotes may exhibit clubbed feet or hands (J:13501)

renal/urinary system
• at E11.5-E15.5, homozygotes show a range of defects in metanephric kidney development, followed by degeneration of early metanephric rudiments
• however, 20% of homozygous mutant embryos display a relatively normal metanephric development, including formation of glomeruli by E15.5
• by E13.5-E14.5, the metanephric mesenchyme is poorly differentiated with many cells containing pyknotic nuclei suggestive of apoptosis
• by E13.5-E14.5, many cells contain pyknotic nuclei suggesting apoptosis
• at E11.5-E15.5, some homozygotes display small and pooorly differentiated metanephroi, followed by degeneration of early metanephric rudiments
• by E13.5-E14.5, mutant kidneys appear developmentally delayed and are much smaller than those of wild-type mice
• at E13.5-E14.5
• homozygotes may lack one or both kidneys (J:13501)
• 2 of 146 live-born survivors display grossly cystic kidneys
• homozygotes may exhibit only one kidney (J:13501)
• 20 of 146 live-born survivors display complete unilateral renal agenesis (J:83745)
• at E11.5-E12.5, homozygous mutant embryos exhibit a dilated uteric bud
• at E11.5-E12.5, homozygous mutant embryos display reduced ureteric bud branching relative to wild-type embryos

vision/eye
• homozygotes display reduced eyes
• adult homozygotes display cryptophthalmos

integument
• homozygotes often display abnormal hair development between the eyes
• blebs are still visible at birth
• at E14.5, homozygotes display prominent blebs over the rump and smaller blebs over the head and forelimb
• however, homozygotes that survive and are live-born show no signs of skin blistering

cellular
• by E13.5-E14.5, many cells contain pyknotic nuclei suggesting apoptosis
• separation of the basement membrane from the dermis occurs at ~E11.5, prior to the development of overt blebs

Mouse Models of Human Disease
OMIM IDRef(s)
Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF 119800 J:83745
Fraser Syndrome 219000 J:83745