Phenotypes associated with this allele

• Allele Symbol: Fras1^tm1Chpk
• Allele Name: targeted mutation 1, George Chalepakis
• Allele ID: MGI:2667194
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fras1^tm1Chpk/Fras1^tm1Chpk	involves: 129S1/Sv * 129X1/SvJ * C57BL/10	MGI:2667203
hm2	Fras1^tm1Chpk/Fras1^tm1Chpk	involves: 129S1/Sv * 129X1/SvJ * NMRI	MGI:3833377

Genotype
MGI:2667203

hm1

• Allelic Composition: Fras1^tm1Chpk/Fras1^tm1Chpk
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/10

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:83746 )

• Background Sensitivity: blisters become hemorrhagic and embryos die between E14.5 and E16.5 on a 129;C57BL/10 background

lethality throughout fetal growth and development, incomplete penetrance ( J:83746 )

• Background Sensitivity: on a 129;NMR1 background, the phenotype is slightly milder allowing 50% of embryos to develop to term, half of which survive to adulthood and are fertile

limbs/digits/tail

syndactyly ( J:83746 )

• in various forms, observed in 90% of mice that survive to birth

renal/urinary system

absent kidney ( J:83746 )

• unilateral or bilateral renal agenesis, or dysgenesisi and hypoplasia

vision/eye

cryptophthalmos ( J:83746 )

• mice that survive have permanent fusion of one or both eyelids

integument

blistering ( J:83746 )

• subepidermal blistering in embryos observed in the head region around the eyes and the distal part of the limbs

• blisters become hemorrhagic and embryos die between E14.5 and E16.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:83746

Genotype
MGI:3833377

hm2

• Allelic Composition: Fras1^tm1Chpk/Fras1^tm1Chpk
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * NMRI

Defective septation of right lung lobes in Fras1^tm1Chpk/Fras1^tm1Chpk embryos

respiratory system

abnormal lung morphology ( J:137010 )

• embryonic lung shows basement membrane distortions

• endothelial cells are locally detached from the basement membrane in the terminal sacs

• extravasation of erythrocytes into the embryonic respiratory lumen

abnormal lung vasculature morphology ( J:137010 )

• disarrangement of blood capillaries in the terminal air sacs of the lungs

abnormal lung development ( J:137010 )

• lobar septation defects are observed throughout embryogenesis and adulthood

abnormal lung epithelium morphology ( J:137010 )

• local disruptions of epithelial-endothelial contacts

fused right lung lobes ( J:137010 )

• mutants exhibit completely or partially fused right lung lobes resulting from incomplete separation during development

cardiovascular system

abnormal lung vasculature morphology ( J:137010 )

• disarrangement of blood capillaries in the terminal air sacs of the lungs

cellular

abnormal basement membrane morphology ( J:137010 )

• embryonic lung shows basement membrane distortions

• basement membranes between endothelial and epithelial type I cells in the lung appear wider and less dense compared with wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Fraser syndrome		DOID:0090001	OMIM:PS219000	J:137010