Phenotypes associated with this allele

• Allele Symbol: Spin4^em1Jbn
• Allele Name: endonuclease-mediated mutation 1, Jeffrey Baron
• Allele ID: MGI:7621834
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spin4^em1Jbn/Spin4^em1Jbn	involves: C57BL/6J	MGI:7623149
ht2	Spin4^em1Jbn/Spin4^+	involves: C57BL/6J	MGI:7623148
ot3	Spin4^em1Jbn/Y	involves: C57BL/6J	MGI:7623147

Genotype
MGI:7623149

hm1

• Allelic Composition: Spin4^em1Jbn/Spin4^em1Jbn
• Genetic Background: involves: C57BL/6J

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

growth/size/body

increased body weight ( J:347154 )

♀ • at 10 weeks of age, body weight is significantly greater in homozygous females relative to heterozygous females, indicating a gene dosage effect

Genotype
MGI:7623148

ht2

• Allelic Composition: Spin4^em1Jbn/Spin4⁺
• Genetic Background: involves: C57BL/6J

growth/size/body

increased body weight ( J:347154 )

♀ • body weight is significantly increased in heterozygous females at 10 weeks of age

Genotype
MGI:7623147

ot3

• Allelic Composition: Spin4^em1Jbn/Y
• Genetic Background: involves: C57BL/6J

growth/size/body

increased heart weight ( J:347154 )

♂ • heart weight is significantly increased both at 2 and at 10 weeks of age

increased body size ( J:347154 )

♂

increased body weight ( J:347154 )

♂ • body weight is significantly increased at 10 weeks of age

♂ • all major organ weights analyzed, except liver weight, are significantly increased at 10 weeks of age

♂ • increase in organ mass is proportional to the increase in overall body mass, suggesting a uniform overgrowth in multiple tissues

increased body length ( J:347154 )

♂ • overall body length is significantly increased both at 2 and at 10 weeks of age

increased kidney weight ( J:347154 )

♂ • kidney weight is significantly increased at 10 but not at 2 weeks of age

increased lung weight ( J:347154 )

♂ • lung weight is significantly increased both at 2 and at 10 weeks of age

increased liver weight ( J:347154 )

♂ • liver weight is significantly increased at 2 but not at 10 weeks of age

increased spleen weight ( J:347154 )

♂ • spleen weight is significantly increased at 10 but not at 2 weeks of age

skeleton

long tibia ( J:347154 )

♂ • tibial bone length is significantly increased both at 2 and at 10 weeks of age

increased long bone epiphyseal plate size ( J:347154 )

♂ • overall proximal tibia growth plate height is significantly increased at 2 weeks of age, along with a marked increase in the height of the resting zone

♂ • however, the height of the proliferative zone and hypertrophic zone, number of proliferative and hypertrophic cells per column, and height of individual proliferative and terminal hypertrophic cells are not significantly changed

increased chondrocyte number ( J:347154 )

♂ • number of chondrocytes per 500 um growth plate width as well as the number of Sfrp5+ and CD73+ stem-like progenitor chondrocytes are significantly increased in the resting zone of the proximal tibial growth plate at 2 weeks of age

♂ • when resting zone chondrocyte number is normalized to total area, cell density is decreased, suggesting increased production or reduced resorption of cartilage extracellular matrix

abnormal chondrocyte physiology ( J:347154 )

♂ • in culture, growth plate chondrocytes isolated from 1-week-old mice exhibit decreased baseline Wnt signaling activity, providing a plausible explanation for the increased number of resting zone chondrocytes

increased chondrocyte proliferation ( J:347154 )

♂ • rate of proliferation is significantly increased in the proliferative zone of the proximal tibial growth plate at 2 weeks of age, as assessed by EdU incorporation

♂ • although an overall increase in EdU+ resting chondrocytes is observed, the resting zone proliferative index (EdU count normalized to total cell number) is not significantly changed

renal/urinary system

increased kidney weight ( J:347154 )

♂ • kidney weight is significantly increased at 10 but not at 2 weeks of age

cardiovascular system

increased heart weight ( J:347154 )

♂ • heart weight is significantly increased both at 2 and at 10 weeks of age

respiratory system

increased lung weight ( J:347154 )

♂ • lung weight is significantly increased both at 2 and at 10 weeks of age

nervous system

increased brain weight ( J:347154 )

♂ • brain weight is significantly increased both at 2 and at 10 weeks of age

hematopoietic system

increased spleen weight ( J:347154 )

♂ • spleen weight is significantly increased at 10 but not at 2 weeks of age

liver/biliary system

increased liver weight ( J:347154 )

♂ • liver weight is significantly increased at 2 but not at 10 weeks of age

limbs/digits/tail

long tibia ( J:347154 )

♂ • tibial bone length is significantly increased both at 2 and at 10 weeks of age

immune system

increased spleen weight ( J:347154 )

♂ • spleen weight is significantly increased at 10 but not at 2 weeks of age

cellular

increased chondrocyte proliferation ( J:347154 )

♂ • rate of proliferation is significantly increased in the proliferative zone of the proximal tibial growth plate at 2 weeks of age, as assessed by EdU incorporation

♂ • although an overall increase in EdU+ resting chondrocytes is observed, the resting zone proliferative index (EdU count normalized to total cell number) is not significantly changed