- abnormal lung morphology / MGI
- abnormal lung development / MGI
- abnormal lung vasculature morphology / MGI
- abnormal basement membrane morphology / MGI
- abnormal lung epithelium morphology / MGI
- fused right lung lobes / MGI
- absent kidney / MGI
- syndactyly / MGI
- blistering / MGI
- cryptophthalmos / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- lethality throughout fetal growth and development, incomplete penetrance / MGI
STOCK Fras1tm1Chpk/PgrKieg
Status | Available to order |
EMMA ID | EM:00072 |
International strain name | STOCK Fras1tm1Chpk/PgrKieg |
Alternative name | Fras-1, Fras-1 KO, CD1;129/SvR1-Fras1tmGC-103 |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Fras1tm1Chpk, |
Gene/Transgene symbol | Fras1 |
Information from provider
Provider | Peter Gruss |
Provider affiliation | Max Planck Inst. Biophysical Chemistry |
Genetic information | Fras1 has been inactivated by homologous recombination in R1 mouse embryonic stem cells, by inserting a targeting construct into the Fras1 locus in a sequence corresponding to amino acid 162, at the MscI restriction site after the first 16 bp of exon 6 (Vrontou et al., 2003). Genomic DNA was isolated from a mouse 129/Ola genomic library constructed in the lGEMTM-12 vector. In the targeting construct, an expression cassette (pGNA-vector, Mouellic et al., 1990) containing the beta-galactosidase gene fused in-frame to Fras1-coding sequence, and the RSV promoter which controls the expression of the neomycin gene was flanked by 2.6 kb upstream and 10.3 kb downstream Fras1 genomic sequences. |
Phenotypic information | The phenotype has been investigated on both the C57BL/10 and NMRI background in the F5 generation. Homozygous embryos on the C57BL/10 background have large subepidermal blisters predominantly formed in the head region around the eyes and at the distal part of the limbs. This phenotype occurs at approximately E12.0, and, as development proceeds, blisters that are initially transparent, gradually become hemorrhagic, and finally, homozygous embryos die between E14.5 and E16.5. Fras1 mutants on the NMRI background display an identical, although occasionally slightly milder phenotype that allows some embryos to develop to term, half of which survive to adulthood and are fertile. The external phenotypic features of the living homozygous include the permanent fusion of one or both eyelids and of some or all digits. Fras1 mutants in both backgrounds are further characterized by unilateral or bilateral renal agenesis and/or dysgenesis and hypoplasia. |
References |
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Information from EMMA
Archiving centre | Karolinska Institutet, Stockholm, Sweden |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Renal agenesis, unilateral / Orphanet_93100
- Fraser syndrome / Orphanet_2052
MGI phenotypes (allele matching)
Literature references
- Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice.;Vrontou Sophia, Petrou Petros, Meyer Barbara I, Galanopoulos Vassilis K, Imai Kenji, Yanagi Masayuki, Chowdhury Kamal, Scambler Peter J, Chalepakis Georges, ;2003;Nature genetics;34;209-14; 12766770
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