Phenotypes Associated with This Genotype

Genotype
MGI:4459464

• Allelic Composition: Lmna^Dhe/Lmna^Dhe
• Genetic Background: B6(D2)-Lmna^Dhe/TyGrsrJ

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

Skull growth and mineralization deficiencies in Lmna^Dhe/Lmna^Dhe and Lmna^Dhe/Lmna⁺ mice

mortality/aging

premature death ( J:160175 )

• die by 10 days of age

skeleton

abnormal cranium morphology ( J:160175 )

• large open areas domiante the posterior aspect of the skull

abnormal sagittal suture morphology ( J:160175 )

• at 1 week of age, there is a gap between the the edges of the parietal bones and these bones are connected by a very thin band of connective tissue

abnormal neurocranium morphology ( J:160175 )

• bone growth deficiency

decreased bone mineralization ( J:160175 )

• striking deficiency in bone mineralization

craniofacial

abnormal cranium morphology ( J:160175 )

• large open areas domiante the posterior aspect of the skull

abnormal sagittal suture morphology ( J:160175 )

• at 1 week of age, there is a gap between the the edges of the parietal bones and these bones are connected by a very thin band of connective tissue

abnormal neurocranium morphology ( J:160175 )

• bone growth deficiency

abnormal hard palate morphology ( J:160175 )

• separation of epidermis from dermis on the hard palate

abnormal tongue morphology ( J:160175 )

• locally extensive coagulative necrosis with severe ulcer formation on the tongue

digestive/alimentary system

abnormal hard palate morphology ( J:160175 )

• separation of epidermis from dermis on the hard palate

abnormal tongue morphology ( J:160175 )

• locally extensive coagulative necrosis with severe ulcer formation on the tongue

adipose tissue

decreased subcutaneous adipose tissue amount ( J:160175 )

• hypodermal fat layer is markedly thinned

pigmentation

abnormal epidermal melanocyte morphology ( J:160175 )

• dentritic cells containing pigment within the interfollicular epidermis which is not seen in wild-type

limbs/digits/tail

abnormal tail morphology ( J:160175 )

• the tail skin epidermis separated along the level of the basement membrane resulting in ulcer formation

cellular

abnormal nuclear lamina morphology ( J:160175 )

• grossly abnormal nuclear lamina of cultured primary calvarial osteoblasts; with distinctive wrinkling or furrowing of the nuclear lamina as compared to wild-type controls

endocrine/exocrine glands

sebaceous gland hypoplasia ( J:160175 )

• hypoplastic sebaceous glands

integument

decreased subcutaneous adipose tissue amount ( J:160175 )

• hypodermal fat layer is markedly thinned

sebaceous gland hypoplasia ( J:160175 )

• hypoplastic sebaceous glands

alopecia ( J:160175 )

• diffuse

abnormal hair cycle anagen phase ( J:160175 )

• shortened anagen phase hair follicles limited to dermis

abnormal epidermal layer morphology ( J:160175 )

• epidermal hypertrophy and epidermal dysplasia

abnormal epidermis stratum basale morphology ( J:160175 )

• apoptotic keratinocytes are scattered throughout stratum basale

orthokeratosis ( J:160175 )

abnormal epidermis stratum granulosum morphology ( J:160175 )

• prominent with abundant cytoplasm with a fine basophilic stipling

abnormal keratinocyte morphology ( J:160175 )

• many are binucleated

epidermal hyperplasia ( J:160175 )

thick epidermis ( J:160175 )

abnormal epidermal melanocyte morphology ( J:160175 )

• dentritic cells containing pigment within the interfollicular epidermis which is not seen in wild-type

growth/size/body

abnormal hard palate morphology ( J:160175 )

• separation of epidermis from dermis on the hard palate

abnormal tongue morphology ( J:160175 )

• locally extensive coagulative necrosis with severe ulcer formation on the tongue