Mouse Genome Informatics
tg1
    Tg(Msx2)1Rem/0
involves: C57BL/6 * CBA/J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• skulls exhibit a small patch of ectopic bone centered above the posterior portion of the sagittal suture just anterior to the lambdoid suture

skeleton
• skulls exhibit a small patch of ectopic bone centered above the posterior portion of the sagittal suture just anterior to the lambdoid suture
• premature suture closure of the calvarium

hearing/vestibular/ear

vision/eye

integument
• the angle of hair follicles is irregular and thus some hair shafts appear to fail to find a way out
• increase in the number of empty hair follicles
• bulb regions of the hair follicle are poorly developed and there are fewer matrix epithelial cells
• at the proximal level of the follicle, the concentric rings of the matrix cells are lost and replaced by irregularly arranged cells
• the inner root sheath region is poorly developed
• at the proximal level of the follicle, the concentric rings of the inner root sheath are lost and replaced by irregularly arranged cells
• at the proximal level of the follicle, the concentric rings of the outer root sheath are lost and replaced by irregularly arranged cells
• thinner outer root sheath
• hair follicles are spread through different depths of the dermal layer
• hair follicles are misaligned and exhibit an irregular angle
• skin phenotypes are most severe in the first 2 weeks after birth and gradually decrease such that by 1 month of age, they are no longer apparent
• the occipital, posterior body, and flank regions are most affected
• vacuolated tissue and absence of connective tissue
• increase in cellularity and dysplastic changes in the epidermis, with irregular epidermal invaginations with embedded hair follicles
• cell density in the stratum basale is higher than in wild-type
• the orderly and parallel transition of cells from the stratum spinosum to the corneum is disrupted and instead, many cells are randomly distributed in the suprabasal layers
• thickend suprabasal layer with increased cellularity that is misaligned

Mouse Models of Human Disease
OMIM IDRef(s)
Craniosynostosis 2; CRS2 604757 J:26513