STOCK Frem2^ne/GrsrJ

Stock number: 006857
Product name: no eyelid
Research areas: Developmental Biology Research

Description

This spontaneous, single point no eyelid mutation (Frem2^ne, originally ne) is characterized by eyelid, eye, digit, ear and coat color abnormalities.

Detailed description

Mice homozygous for the no eyelid mutation have a range of phenoytpes with varying penetrance including missing eyelid, closed eyelids, microphthalmia, ocular deformities, malformed digits, malformed ear pinnae, renal agenesis, and slight discoloration of the fur on the head.

Development

The no eyelids mutation arose spontaneously in 2005 in a mapping cross between STOCK Tg(CAG-Bgeo/GFP)21Lbe/J and CAST/EiJ. A mutant male was found in the F2 generation and was crossed to both a C57BL/6J female and a CAST/EiJ female. No mutants were identified in the offspring of the C57BL/6J female, but the CAST/EiJ female did permit propagation of the mutation and the transgene was selected against to remove it from the mutant stock. The offspring of the CAST/EiJ outcross were intercrossed and the strain has been maintained by sibling intercrossing heterozygotes with homozygotes.

Allele

Symbol: Frem2^ne
Name: no eyelid
MGI accession ID: MGI:3794302
Generation method: Spontaneous
Marker symbol: Frem2
Marker name: Fras1 related extracellular matrix protein 2
Chromosome: 3
Strain of origin: STOCK Tg(CAG-Bgeo/GFP)21Lbe/J
Molecular note: This spontaneous G-to-A mutation at position 53,547,675 (GRCm38) causes an alanine to valine substitution at residue 2160 in the fourth Calx-beta domain. (NM_172862.3:c.6479C>T, p.Ala2160Val)