C57BL/6J-Lama1^nmf223/J

Stock number: 005094
Product name: nmf223
Research areas: Developmental Biology Research, Sensorineural Research

Description

These mice carry an ENU-induced mutation characterized by retinal vasculopathy.

The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.

Detailed description

Homozygotes have retinal vasculopathy, characterized by vitreal fibroplasias and vessel tortuosity. There is thinning of the peripheral inner nuclear layer and variable cell loss in the retinal ganglion cell layer, along with reduced dark and light adapted electroretinogram amplitudes. There is abnormal migration of retinal astrocytes into the vitreous and the persistence of hyaloid vaculature. While targeted disruption of the alpha 1 laminin gene causes a more severe phenotype, including the absence of the inner limiting membrane, this hypomorph nevertheless displays ectopic cells and blood vessels within the vitreous indicative of reduced integrity of the inner limiting membrane.

Development

A C57BL/6J male treated with N-ethyl-N-nitrosourea was bred with a C57BL/6J female, a resulting F1 male was backcrossed to C57BL/6J females from which an N2 female offspring was backcrossed to the F1 male parent to generate a population expressing the captured recessive mutations. From this population nmf223 was identified and kept on the C57BL/6J background. In 2004 embryos were generated for cryopreservation via in vitro fertilization using C57BL/6J females and a homozygous male at generation N3F1.

Allele

Symbol: Lama1^nmf223
Name: neuroscience mutagenesis facility, 223
MGI accession ID: MGI:4455292
Generation method: Chemically induced (ENU)
Marker symbol: Lama1
Marker name: laminin, alpha 1
Chromosome: 17
Strain of origin: C57BL/6J
Molecular note: An A to G missense mutation results in a tyrosine to cysteine mutation at the highly conserved amino acid 265, which lies in the end of the N-terminal domain.