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Phenotype Image Detail
Image
Caption Craniofacial and skeletal mutants, (A-D) Fras1bfb/Fras1bfb (Line 11BC-5, bfb); (E-G) Ift140cauli/Ift140cauli (Line 11BC-3, cauli); (H-J) knyn/knyn (Line 12WT-49, kanyon); and (K-M) Crklsnoop/Crklsnoop (Line 12WT-9, snoopy). Fras1bfb/Fras1bfb mutant at E13.5 (A) and E18.5 (B-D) exhibiting characteristic hemorrhagic blisters over the eye, side of the head and feet (arrows). The foot blisters can be discrete or distended as in (C) but are typically associated with digit malformation including polydactyly. The blisters over the eye are commonly associated with open eyelids (D). Ift140cauli/Ift140cauli embryos at (E) E13.5 and (F) E16.5 present with exencephaly (asterisk) and polydactyly (arrow). (G) Fore- (FL) and hindlimbs (HL) of an E13.5 Ift140cauli/Ift140cauli embryo illustrating the variable autopod phenotype in the forelimbs. knyn/knyn embryos (H-J) frequently present with exencephaly (H, asterisk) and midfacial clefts. Clefts may result froma defect of frontonasal process development such that the maxillary and frontonasal processes (arrowheads) completely fail to fuse (I) or may present as bilateral cleft lip and palate (J) in mild cases. Regardless of the severity of the facial cleft, theeyes never develop normally (I, J). Crklsnoop/Crklsnoop embryos (K-M) present with forebrain malformation, poor eye development and mandibular hypoplasia/agnathia (arrow). (L, M) The forebrain often fails to divide into two vesicles (asterisk) and is associated with various degrees of hypotelorism (M).
Copyright This image is from Caruana G, PLoS One 2013;8(3):e55429, and is displayed under the terms of the Creative Commons Attribution 4.0 International License. J:199856
Associated
Alleles
Symbol Name
Crklsnoop v-crk avian sarcoma virus CT10 oncogene homolog-like; snoopy
Fras1bfb Fraser extracellular matrix complex subunit 1; blood filled blisters
Ift140cauli intraflagellar transport 140; cauliflower
knyn kanyon
Associated
Genotypes
Allelic Composition Genetic Background
Fras1bfb/Fras1bfb involves: C3H/HeH * C57BL/6JAnu
knyn/knyn involves: C3H/HeH * C57BL/6JAnu
Ift140cauli/Ift140cauli involves: C3H/HeH * C57BL/6JAnu
Crklsnoop/Crklsnoop involves: C3H/HeH * C57BL/6JAnu

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory