B6.129S4-Shroom3^{Gt(ROSA53)Sor}/J

Stock number: 003754
Product name: shroom
Research areas: Developmental Biology Research, Neurobiology Research, Research Tools

Description

These mice harbor a recessive, lethal gene trap mutation, exhibiting failed neural tube closure resulting in exencephaly, acrania, and facial clefting by day E14.5.

Detailed description

Mice that are homozygous for this mutation survive to term or die very shortly after birth. The gene trap insertion appears to have occurred between the translational start sites of the long and short forms in the 5' portion of the endogenous gene. No gene product (protein or mRNA) is detected in homozygous embryos. Mutant embryos can be distinguished by E9.25 as the lateral edges of the cranial neural folds exhibit a wavy appearance and fail to converge at the dorsal midline. As the embryo develops, the neural folds continue to enlarge and develop away from the dorsal midline, presenting a mushroom-like appearance. By day E14.5, failed neural tube closure results in exencephaly, acrania, and facial clefting. Some mutants exhibit defects in ventral closure resulting in herniation of the intestine and liver. Not all aspects of the phenotype are fully penetrant. Hemizygous mice express a B-galactosidase under the control of the endogenous promoter, with expression variously observed in the neural tube, forebrain, somites, ventral body wall, heart, gut and skeletal muscle.

Development

A retroviral vector ROSA-BgalCre containing a gene trap cassette was introduced into AK7 embryonic stem (ES) cells. The components of ROSA-BgalCre include an adenovirus splice acceptor, a bifunctional gene fusion between B-galactosidase and Cre recombinase, and the MC1 polyadenylation sequence. ES cells containing gene trap insertions were used to generate chimeric mice. Resulting chimeric male animals were backcrossed to wildtype C57BL/6J females.

Allele

Symbol: Shroom3^{Gt(ROSA53)Sor}
Name: gene trap ROSA53, Philippe Soriano
MGI accession ID: MGI:1889778
Generation method: Gene trapped
Attributes: Reporter; Null/Knockout
Marker symbol: Shroom3
Marker name: shroom family member 3
Chromosome: 5
Strain of origin: 129S4/SvJaeSor
Expressed genes: lacZ,beta-galactosidase,E. coli
Site of expression: Expression of lacZ is detected in the neural tube, forebrain, somites, ventral body wall, heart, gut and skeletal muscle.
Molecular note: Gene trap insertion which disrupted expression of one of two alternative splice forms. Insertion occurred 3' of the translation start site for the longer transcript, but 5' to the translational start site for the shorter transcript.