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Phenotypes Associated with This Genotype
Genotype
MGI:2657302
Allelic
Composition
Fras1bl/Fras1bl
Genetic
Background
involves: 101/H * C3H/HeH
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fras1bl mutation (2 available); any Fras1 mutation (83 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• by E13.5-E14.5, many cells contain pyknotic nuclei suggesting apoptosis

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


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
04/26/2016
MGI 6.03
The Jackson Laboratory