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Phenotypes Associated with This Genotype
Genotype
MGI:3038292
Allelic
Composition
Twist2tm1(cre)Dor/Twist2tm1(cre)Dor
Genetic
Background
involves: 129/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Twist2tm1(cre)Dor mutation (0 available); any Twist2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 60% dead by 3 days after birth

adipose tissue
• complete absence of subcutaneous fat at the nape of the neck
• amount of subcutaneous fat is prominently reduced
• adipose deficiency and atrophy observed in multiple tissues during neonatal period
• adipocytes have fewer lipid cytoplasmic vacuoles than wild-type
• interscapular brown fat adipocytes are atrophic in neonatal (2-day old) pups
• interscapular brown fat adipocytes are atrophic in neonatal (2-day old) pups

behavior/neurological
• prior to death

growth/size/body

hematopoietic system
• effacement of normal thymic microarchitecture is observed in neonatal animals (2 days of age)
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• spleen shows effacement of the normal architecture due to lymphoid depletion in white pulp
• severe lymphoid depletion

homeostasis/metabolism
• serum glucose is about half of that in wild-type animals at 2 days postnatal
• hepatic glycogen stores are lost
• glycogen is absent from liver in 2-day old animals but is present prenatally
• glycogen is absent from skeletal muscle in 2-day old animals but is present prenatally
• increased expresssion of IL-1beta and IL-6 in skin and skeletal muscle
• increased expression in skin and skeletal muscle
• elevated serum levels

immune system
• effacement of normal thymic microarchitecture is observed in neonatal animals (2 days of age)
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• spleen shows effacement of the normal architecture due to lymphoid depletion in white pulp
• severe lymphoid depletion
• increased expresssion of IL-1beta and IL-6 in skin and skeletal muscle
• increased expression in skin and skeletal muscle
• elevated serum levels

liver/biliary system
• hepatic glycogen stores are lost
• glycogen is absent from liver in 2-day old animals but is present prenatally
• atrophic, with microvesicular vacuolization, consistent with depletion of glycogen stores

muscle
• prior to death
• in 2-day old animals, increase in apoptotic cells is observed; in older pups, myofiber breakdown is observed
• glycogen is absent from skeletal muscle in 2-day old animals but is present prenatally

skeleton
• at E14, homozygotes display premature osteoblast differentiation and vascular invasion in skeletal elements ossifying through intramembranous (clavicles) or endochondral mechanism (ribs)
• at E14, cuboidal osteocalcin-expressing osteoblasts are organized in bone collar-like structures around the developing ribs in homozygous null but not in wild-type embryos

integument
• complete absence of subcutaneous fat at the nape of the neck
• dermal layer is atrophic due to reduction in adipose tissue leading to striking decrease in dermal thickness
• atrophy with hyperkeratosis in the epidermis
• atrophy with hyperkeratosis in the epidermis

cellular
• at E14, homozygotes display premature osteoblast differentiation and vascular invasion in skeletal elements ossifying through intramembranous (clavicles) or endochondral mechanism (ribs)
• at E14, cuboidal osteocalcin-expressing osteoblasts are organized in bone collar-like structures around the developing ribs in homozygous null but not in wild-type embryos

endocrine/exocrine glands
• effacement of normal thymic microarchitecture is observed in neonatal animals (2 days of age)
• poorly defined in 2-day old pups due to loss of normal thymic architecture
• poorly defined in 2-day old pups due to loss of normal thymic architecture


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
01/20/2026
MGI 6.24
The Jackson Laboratory