Phenotype Image Detail

Image

Caption

Craniofacial and skeletal mutants, (A-D) Fras1^bfb/Fras1^bfb (Line 11BC-5, bfb); (E-G) Ift140^cauli/Ift140^cauli (Line 11BC-3, cauli); (H-J) knyn/knyn (Line 12WT-49, kanyon); and (K-M) Crkl^snoopy/Crkl^snoopy (Line 12WT-9, snoopy). Fras1^bfb/Fras1^bfb 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). Ift140^cauli/Ift140^cauli 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 Ift140^cauli/Ift140^cauli 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). Crkl^snoopy/Crkl^snoopy 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
Crkl^snoopy	v-crk avian sarcoma virus CT10 oncogene homolog-like; snoopy
Fras1^bfb	Fraser extracellular matrix complex subunit 1; blood filled blisters
Ift140^cauli	intraflagellar transport 140; cauliflower
knyn	kanyon

Associated Genotypes

Allelic Composition	Genetic Background
Fras1^bfb/Fras1^bfb	involves: C3H/HeH * C57BL/6JAnu
knyn/knyn	involves: C3H/HeH * C57BL/6JAnu
Ift140^cauli/Ift140^cauli	involves: C3H/HeH * C57BL/6JAnu
Crkl^snoopy/Crkl^snoopy	involves: C3H/HeH * C57BL/6JAnu