B6.Cg-+Bmp5^se-30DThWb/Myo5a^dBmp5^se/J

Stock number: 031329
Product name: se^DThWb
Research areas: Dermatology Research, Developmental Biology Research, Mouse/Human Gene Homologs

Description

These mice carry the radiation-induced se-30DThWb allele of the Bmp5 (bone morphogenetic protein 5) gene. It is useful in studies of Bmp5 function.

Detailed description

The radiation-induced se-30DThWb (short ear 30DThWb) mutation was generated to study structure/function relationships of Bmp5 (bone morphogenetic protein 5), a gene associated with skeletal development. A chromosomal rearrangement occurred in a large genomic region 3' of the last Bmp5 coding exon.

Mice homozygous for the se-30DThWb mutation have shortened ears due to a reduction in the cartilage of the outer ear pinna. They also show reduced or loss of Bmp5 expression in the developing ear pinna, thyroid cartilage, genital tubercle, and sternum. se30DthWb mutants have reduced Bmp5 expression in the lung mesenchyme coupled with ectopic expression in the lung epithelium.

The Bmp5^se (short ear) and closely linked Myo5a^d (dilute coat color mutation) are located on the opposite member of the mouse Chromosome 9 pair from the Bmp5^se-30DThWb allele (in repulsion).

The donating laboratory maintained the strain through Myo5a⁺Bmp5^se-30DThWb/Myo5a^dBmp5^se x Myo5a^dBmp5^se/Myo5a⁺Bmp5⁺ crosses. Short-eared, dark-coated progeny will carry the Bmp5^se-30DThWb allele.

Development

The se-30DThWb mutation was created through irradiation of (101/R1 x C3H/R1)F1 hybrid mice. The mutation involves a large chromosomal rearrangement with undefined breakpoints in a region 3' of the last Bmp5 coding exon. Mice were bred to "T strain" mice carrying the classical Bmp5^se (short ear) mutation coupled with the nearby Myo5a^d (myosin VA; dilute) coat color mutation. This strain has been backcrossed to a C57BL/6-Myo5a^dBmp5^se strain for more than 10 generations by the donating laboratory.

Allele

Symbol: Bmp5^se
Name: short ear
MGI accession ID: MGI:1856150
Generation method: Spontaneous
Synonyms: se^GnJ
Marker symbol: Bmp5
Marker name: bone morphogenetic protein 5
Chromosome: 9
Strain of origin: mice from Abbie Lathrop mouse farm
Molecular note: The C to T substitution creates a stop codon at arginine codon 208 (p.R208*). The resulting truncated protein does not include the carboxy terminal signaling portion of the molecule.

Allele

Symbol: Bmp5^se-30DThWb
Name: short ear 30DThWb
MGI accession ID: MGI:1857398
Generation method: Radiation induced
Marker symbol: Bmp5
Marker name: bone morphogenetic protein 5
Chromosome: 9
Strain of origin: (101/RI x C3H/R1)F1
Molecular note: The open reading frame of the gene is intact. The mutation is thought to be in regulatory regions of the gene. The mutation affects expression of Bmp5 in particular anatomical features within the skeleton. The breakpoints map to the 3' regulatory region of the gene.
General note: This is an X-ray induced mutation.

Allele

Symbol: Myo5a^d
Name: dilute
MGI accession ID: MGI:1856004
Generation method: Spontaneous
Synonyms: blue dilution; d; d^v; Maltese dilution
Marker symbol: Myo5a
Marker name: myosin VA
Marker synonyms: 9630007J19Rik; Dbv; Dop; flail; GS1; MVa; Myh12; MYO5; MyoVA; MYR12; nmf244
Chromosome: 9
Strain of origin: old mutant of the mouse fancy
Molecular note: This mutation is the result of the integration of ecotropic murine leukemia virus Emv-3 into a noncoding region of the Myo5a^d gene. Reversions of Myo5a^d to wild-type are caused by excision of the virus leaving exactly one long terminal repeat in place.