BALB/cByJ Agtpbp1^pcd-3J-Bmp5^cfe-se6J/GrsrJ

Stock number: 005348
Research areas: Neurobiology Research, Sensorineural Research

Description

The ear pinnae of homozygotes are ragged around the edges, yet uniform, and smaller than normal.

Detailed description

The ear pinnae of homozygotes are ragged around the edges, yet uniform, and smaller than normal.

Development

The cauliflower ear 6 Jackson mutation arose spontaneously on the BALB/cByJ-Agtpbp1^pcd-3J/J background at The Jackson Laboratory in 2004 and was maintained on this background by sibling intercrossing. In 2005 sperm was cryopreserved from homozygous males at generation +F4. When recovered from cryopreservation the recessive pcd-3J mutation was found still segregating in this cryopreserved mutant subline.

Allele

Symbol: Bmp5^cfe-se6J
Name: cauliflower ear short ear 6 Jackson
MGI accession ID: MGI:3510601
Generation method: Spontaneous
Marker symbol: Bmp5
Marker name: bone morphogenetic protein 5
Chromosome: 9
Strain of origin: BALB/cByJ-Agtpbp1^pcd-3J/J
Molecular note: A failed complementation test with the Bmp5^cfe-se7J mutation showed that this mutation is an allele of Bmp5.

Allele

Symbol: Agtpbp1^pcd-3J
Name: Purkinje cell degeneration 3 Jackson
MGI accession ID: MGI:1857523
Generation method: Spontaneous
Attributes: Null/Knockout
Synonyms: Ccp1^-
Marker symbol: Agtpbp1
Marker name: ATP/GTP binding protein 1
Marker synonyms: 1700020N17Rik; 2310001G17Rik; 2900054O13Rik; 4930445M19Rik; 5730402G09Rik; atms; CCP1; CONDCA; nmf243; Nna1
Chromosome: 13
Strain of origin: BALB/cByJ
Molecular note: This allele comprises a deletion estimated at approximately 12.2 kb, creating a splice junction between exons 5 and 9 that introduces a premature stop codon. Northern analysis of brain and testis samples showed that mRNA was reduced in abundance and size using probes derived from exons 16 to 19. mRNA was undetectable with a probe from exon 8.