C57BL/6J X (C57BL/6J x AKR/J-Frem1^heb)F1/J

Stock number: 000497
Research areas: Developmental Biology Research, Sensorineural Research

Description

These mice carry a spontaneous mutation at the Frem1 locus characterized by abnormal or missing eyes and occasional hindlimb polydactyly.

Detailed description

Head blebs (Frem1^heb) produces abnormal or missing eyes due to prenatal blebs, usually on the head, some fetal death, open eyelids, and folded retinas at birth. Extra toes or ectopic brains are occasionally observed. Affected adults usually have closed eyelids and atrophic eyes. These mice, along with other mouse blebbing mutants, have been considered as models for Fraser syndrome, a rare recessive disorder in humans characterized by cryptophthalmos, syndactyly, renal defects, and a range of other developmental abnormalities.

Development

The Frem1^heb (head blebs) mutation arose spontaneously on AKR/J. To produce embryos for cryopreservation, C57BL/6J (B6) female mice were bred to (B6xAKR-Frem1^heb)F1 males, e.g., male F1 offspring from a cross of a female C57BL/6J mouse with an AKR/J-Frem1^heb/+ male of generation F140N1F22.

Allele

Symbol: Frem1^heb
Name: head blebs
MGI accession ID: MGI:1856897
Generation method: Spontaneous
Marker symbol: Frem1
Marker name: Fras1 related extracellular matrix protein 1
Chromosome: 4
Strain of origin: AKR/J
Molecular note: Inverse PCR of C57BL/6J identified a LINE1 insertion 41 bp from the 3' end of the exon that was not present in the AKR/J background, thereby rearranging exon 17.