Phenotypes associated with this allele

• Allele Symbol: Slc30a5^tm1Ynak
• Allele Name: targeted mutation 1, Yusuke Nakamura
• Allele ID: MGI:2681466
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Slc30a5^tm1Ynak/Slc30a5^tm1Ynak	involves: C57BL/6	MGI:2681508

Genotype
MGI:2681508

hm1

• Allelic Composition: Slc30a5^tm1Ynak/Slc30a5^tm1Ynak
• Genetic Background: involves: C57BL/6

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

mortality/aging

premature death ( J:86455 )

• males began to die suddenly upon reaching reproductive age

• greater than 60% of males died between 15 and 40 weeks of age

• premature death was not observed in females

adipose tissue

abnormal fat pad morphology ( J:86455 )

• increased total weight of gonadal, inguinal, mesenteric, and retroperitoneal fat pads

increased gonadal fat pad weight ( J:86455 )

• increased gonadal fat depot weight

increased inguinal fat pad weight ( J:86455 )

increased mesenteric fat pad weight ( J:86455 )

increased retroperitoneal fat pad weight ( J:86455 )

cardiovascular system

sinus bradycardia ( J:86455 )

• sinus bradycardia observed in male mice just before and at the time of death

• no evidence of cardiac hypertrophy, congestive heart failure, or cardiomyopathy, suggesting the arrhythmia as the primary cause of death

atrioventricular block ( J:86455 )

• complete AV block observed in male mice just before and at the time of death

growth/size/body

decreased body size ( J:86455 )

• observed in both males and females

decreased body weight ( J:86455 )

• observed in both males and females

postnatal growth retardation ( J:86455 )

• observed in both males and females

• normal serum levels of cholesterol, triglyceride, albumin, and cholinesterase were normal, indicating impaired growth was not due to malnutrition

limbs/digits/tail

abnormal limb bone morphology ( J:86455 )

skeleton

abnormal limb bone morphology ( J:86455 )

abnormal long bone epiphysis morphology ( J:86455 )

• reduced thickness of epiphyseal growth plate relative to wild-type

abnormal axial skeleton morphology ( J:86455 )

kyphosis ( J:86455 )

decreased bone mineral density ( J:86455 )

decreased compact bone thickness ( J:86455 )

decreased osteoblast cell number ( J:86455 )

• reduced bone mass due to impaired osteocyte maturation rather than increased osteoclast activity

behavior/neurological

weakness ( J:86455 )

• exhibited obvious weakness relative to wild-type littermates

• histopathologic analysis of skeletal muslce and peripheral nerves did not reveal signs of dystrophy, atrophy, hypertrophy, or necrosis