Phenotypes associated with this allele

• Allele Symbol: Trps1^tm1Ymur
• Allele Name: targeted mutation 1, Yasuteru Muragaki
• Allele ID: MGI:3772098
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Trps1^tm1Ymur/Trps1^tm1Ymur	involves: 129S1/Sv * 129X1/SvJ	MGI:5635823
hm2	Trps1^tm1Ymur/Trps1^tm1Ymur	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3772167
ht3	Trps1^tm1Ymur/Trps1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3772168

Genotype
MGI:5635823

hm1

• Allelic Composition: Trps1^tm1Ymur/Trps1^tm1Ymur
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

integument

abnormal hair follicle development ( J:220362 )

• primary hair follicles are initiated normally at E14.5, however by E18.5, the number of hair follicles in skin is about half the number of hair follicles in wild-type skin, indicating impaired production of secondary (nontylotrich) hair follicles

decreased hair follicle number ( J:220362 )

• primary hair follicles are initiated normally at E14.5, however by E18.5, the number of hair follicles in skin is about half the number of hair follicles in wild-type skin

abnormal epidermal layer morphology ( J:220362 )

• epidermal cell proliferation is greatly inhibited in E18.5 skin

• epidermal cell apoptosis is greatly increased in E18.5 skin

Genotype
MGI:3772167

hm2

• Allelic Composition: Trps1^tm1Ymur/Trps1^tm1Ymur
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

neonatal lethality, complete penetrance ( J:130140 )

• mice die of respiratory distress shortly after birth

skeleton

short mandible ( J:130140 )

short maxilla ( J:130140 )

absent tracheal cartilage rings ( J:130140 )

• the trachea contains abnormal cartilage plates consisting of small chondrocyte nests instead of fused cartilage rings

decreased length of long bones ( J:130140 )

• long bone length is 85+/-3% of wild-type

abnormal thoracic cage morphology ( J:130140 )

• the rib cage is fragile and is easily broken

short sternum ( J:130140 )

• the sternum is short and thin compared to in wild-type mice

split sternum ( J:130140 )

increased rib number ( J:130140 )

• 30% of mice exhibit an extra rib that is usually unilaterally attached to the sternum

abnormal chondrocyte morphology ( J:130140 )

• fewer proliferating chondrocytes are found in the rib cage and long bones while the number of chondrocytes undergoing apoptosis is reduced compared to in wild-type mice

abnormal bone ossification ( J:130140 )

• calcification of the sternum and development of primary ossification centers in the long bones is reduced

abnormal sternum ossification ( J:130140 )

• calcification is reduced

respiratory system

abnormal lung morphology ( J:130140 )

• mice exhibit reduced air space

small lung ( J:130140 )

thick pulmonary interalveolar septum ( J:130140 )

abnormal trachea morphology ( J:130140 )

• the small cartilage nodules result in collapse of the bronchial lumen with severe narrowing of the air space

absent tracheal cartilage rings ( J:130140 )

• the trachea contains abnormal cartilage plates consisting of small chondrocyte nests instead of fused cartilage rings

respiratory distress ( J:130140 )

• mice die of respiratory distress shortly after birth

growth/size/body

disproportionate dwarf ( J:130140 )

• mice are dwarfed at birth

homeostasis/metabolism

cyanosis ( J:130140 )

• shortly after birth mice become cyanotic

craniofacial

short mandible ( J:130140 )

short maxilla ( J:130140 )

integument

abnormal hair follicle morphology ( J:130140 )

• mice develop severe hair follicle abnormalities

renal/urinary system

decreased renal glomerulus number ( J:157308 )

• newborn mice exhibit about one fifth of the glomerulus number found in wild-type kidneys

abnormal kidney development ( J:157308 )

• metanephric mesenchymal cells fail to form epithelial renal vesicles during early renal development

• at E13.5, a paucity of renal vesicles is observed, unlike in wild-type kidneys

• after E13.5, comma-shaped or S-shaped bodies are observed less frequently than in wild-type kidneys

abnormal metanephric mesenchyme morphology ( J:157308 )

• at E13.5, differentiation of metanephric mesenchymal cells to condensed mesenchymal cells (cap mesenchyme) is reduced relative to wild-type kidneys

• after E13.5, differentiation of cap mesenchyme into epithelial renal vesicles is impaired

• at E14.5, the density of each cap mesenchyme formed beneath the tips of the ureteric buds is significantly reduced

abnormal kidney interstitium morphology ( J:157308 )

• newborn mice exhibit an expanded interstitium in the renal cortex

• cells in this region appear to be metanephric mesenchymal cells rather than myofibroblasts

decreased nephron number ( J:157308 )

• fewer nephrons are formed

abnormal branching involved in ureteric bud morphogenesis ( J:157308 )

• at E14.5, each branch of the ureteric bud is longer than in wild-type kidneys

Genotype
MGI:3772168

ht3

• Allelic Composition: Trps1^tm1Ymur/Trps1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

integument

sparse hair ( J:130140 )

• mice develop scare fur on their back at the age 6 to 8 months