Phenotypes Associated with This Genotype

Genotype
MGI:2174870

• Allelic Composition: Tg(Msx2)1Rem/0
• Genetic Background: involves: C57BL/6 * CBA/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

craniofacial

ectopic cranial bone ( J:26513 )

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

skeleton

ectopic cranial bone ( J:26513 )

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

premature cranial suture closure ( J:26513 )

• premature suture closure of the calvarium

hearing/vestibular/ear

abnormal ear morphology ( J:26513 )

vision/eye

abnormal eye morphology ( J:26513 )

integument

abnormal coat/ hair morphology ( J:56777 )

focal hair loss ( J:56777 )

short hair ( J:56777 )

abnormal hair shaft morphology ( J:56777 )

• the angle of hair follicles is irregular and thus some hair shafts appear to fail to find a way out

abnormal hair follicle morphology ( J:56777 )

• increase in the number of empty hair follicles

abnormal hair follicle bulb morphology ( J:56777 )

• bulb regions of the hair follicle are poorly developed and there are fewer matrix epithelial cells

abnormal hair follicle matrix region morphology ( J:56777 )

• shrunken hair matrixes

disorganized matrix sheath cells ( J:56777 )

• at the proximal level of the follicle, the concentric rings of the matrix cells are lost and replaced by irregularly arranged cells

abnormal hair follicle inner root sheath morphology ( J:56777 )

• the inner root sheath region is poorly developed

disorganized inner root sheath cells ( J:56777 )

• at the proximal level of the follicle, the concentric rings of the inner root sheath are lost and replaced by irregularly arranged cells

abnormal hair follicle orientation ( J:56777 )

• hair follicles are misaligned and exhibit an irregular angle

disorganized outer root sheath cells ( J:56777 )

• at the proximal level of the follicle, the concentric rings of the outer root sheath are lost and replaced by irregularly arranged cells

thin hair follicle outer root sheath ( J:56777 )

• thinner outer root sheath

distorted hair follicle pattern ( J:56777 )

• hair follicles are spread through different depths of the dermal layer

abnormal skin morphology ( J:56777 )

• 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

abnormal dermal layer morphology ( J:56777 )

• vacuolated tissue and absence of connective tissue

dermis papillary layer hypercellularity ( J:56777 )

abnormal epidermal layer morphology ( J:56777 )

• increase in cellularity and dysplastic changes in the epidermis, with irregular epidermal invaginations with embedded hair follicles

abnormal epidermis stratum basale morphology ( J:56777 )

• cell density in the stratum basale is higher than in wild-type

hyperkeratosis ( J:56777 )

disorganized suprabasal layer ( J:56777 )

• 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

thick epidermis suprabasal layer ( J:56777 )

• thickend suprabasal layer with increased cellularity that is misaligned

epidermal desquamation ( J:56777 )

thick epidermis ( J:56777 )

flaky skin ( J:56777 )

scaly skin ( J:56777 )

thick skin ( J:56777 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
craniosynostosis		DOID:2340	OMIM:123100 OMIM:182212 OMIM:600593 OMIM:600775 OMIM:604757 OMIM:615314	J:26513