B6EiC3Sn a/A-Egfr^wa2 Wnt3a^vt/J

Stock number: 000553
Research areas: Cancer Research, Dermatology Research, Developmental Biology Research, Endocrine Deficiency Research, Immunology, Inflammation and Autoimmunity Research, Neurobiology Research

Description

These mice carry two linked, spontaneous mutations, waved 2 (Egfr^wa2) and vestigial tail (Wnt3a^vt); they display curly whiskers and short tails.

Detailed description

Mice homozygous for the spontaneous waved 2 mutation (Egfr^wa2) are recognizable at 2 to 3 days by curly whiskers. The first coat is waved but later coats are not; vibrissae usually remain curled and the guard hairs curved. Some homozygotes have eyelids open at birth. Fertile mutant females have impaired lactation. Mice homozygous for the vestigial tail spontaneous mutation (Wnt3a^vt) have very short tails, few presacral vertebrae, and abnormal formation of the lumbar vertebrae.

Development

The vt mutation in Wnt3a arose spontaneously in the C57BR background.

Allele

Symbol: Egfr^wa2
Name: waved 2
MGI accession ID: MGI:1856397
Generation method: Spontaneous
Marker symbol: Egfr
Marker name: epidermal growth factor receptor
Chromosome: 11
Strain of origin: STOCK ac
Molecular note: A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain results in a substitution of a highly conserved valine with glycine at position 767 (P.V767G) in the third kinase subdomain.
General note: Found by Keeler in an ``abnormal corpus callosum'' stock at the Bussey Institution.

Allele

Symbol: A
Name: wild-type agouti
MGI accession ID: MGI:1856464
Generation method: Spontaneous
Marker symbol: a
Marker name: nonagouti
Chromosome: 2
Strain of origin: various
Molecular note: This allele, often referred to as wild-type, comprises a novel 131 amino acid protein encoded in a gene comprising four exons, three coding, spanning 18kb. Unique changes in this gene account for all other alleles that have been molecularly characterized. The expression of this allele is almost always dominant to other alleles of this gene.
General note: The A allele is usually regarded as a wild-type allele. For example,the C3H and CBA mouse sublines are homozygous for agouti. Hairs are black with a subapical yellow band. This black-yellow-black pattern is referred to as agouti. The general appearance is yellowish brown, slightly lighter on the belly than on the back.

Allele

Symbol: Wnt3a^vt
Name: vestigial tail
MGI accession ID: MGI:1857088
Generation method: Spontaneous
Attributes: Hypomorph
Marker symbol: Wnt3a
Marker name: wingless-type MMTV integration site family, member 3A
Chromosome: 11
Strain of origin: C57BR
Molecular note: Examination of the Wnt3a gene by Southern blot, Northern blot on adult lung tissue and cDNA sequence analysis revealed no sign of an obvious mutation that could account for a mutant phenotype. However, this mutation and a targeted mutation, Wnt3a^tm1Amc, were demonstrated to be noncomplemeting alleles. Further evidence from whole mount in situ hybridization studies on embryos demonstrated that expression of the encoded protein is reduced in homozygous embryos, suggesting that this hypomorphic allele results from a mutation in a regulatory element.