Phenotypes associated with this allele

• Allele Symbol: Iapp^tm1Sgm
• Allele Name: targeted mutation 1, Samuel Gebre-Medhin
• Allele ID: MGI:2656235
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Iapp^tm1Sgm/Iapp^tm1Sgm	involves: 129P2/OlaHsd	MGI:3040608
hm2	Iapp^tm1Sgm/Iapp^tm1Sgm	involves: 129P2/OlaHsd * C57BL/6	MGI:3040596
ht3	Iapp^tm1Sgm/Iapp^+	involves: 129P2/OlaHsd	MGI:3040609
cx4	Calcr^tm1Dgal/Calcr^+ Iapp^tm1Sgm/Iapp^+	involves: 129P2/OlaHsd	MGI:3040612

Genotype
MGI:3040608

hm1

• Allelic Composition: Iapp^tm1Sgm/Iapp^tm1Sgm
• Genetic Background: involves: 129P2/OlaHsd

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

skeleton

increased osteoclast cell number ( J:88964 )

• increased number of osteoclasts

decreased bone mineral density ( J:88964 )

• due to increased bone resorption

decreased compact bone thickness ( J:88964 )

abnormal trabecular bone morphology ( J:88964 )

• decrease in trabecular thickness and in connectivity between trabeculae

osteoporosis ( J:88964 )

• 50% decrease of bone mass with mutants showing a decrease in connectivity between trabeculae, a sign of osteoporosis

increased bone resorption ( J:88964 )

• increase in bone resorption as indicated by increased urinary elimination of deoxypyridinoline and increased numbers of osteoclasts

• however, bone formation rates are normal

hematopoietic system

increased osteoclast cell number ( J:88964 )

• increased number of osteoclasts

immune system

increased osteoclast cell number ( J:88964 )

• increased number of osteoclasts

Genotype
MGI:3040596

hm2

• Allelic Composition: Iapp^tm1Sgm/Iapp^tm1Sgm
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:50042 )

N • normal basal circulating insulin and glucose levels

increased circulating insulin level ( J:50042 )

• males, but not females, show an increased plasma insulin response to a glucose tolerance test

improved glucose tolerance ( J:50042 )

• following glucose administration, males exhibit rapid glucose clearance associated with an increased insulin response

• following glucose administration, females exhibit rapid glucose clearance but show no increase in insulin response relative to wild-type

growth/size/body

increased body weight ( J:50042 )

• from 18 weeks of age, males show a 20% increase in body mass

Genotype
MGI:3040609

ht3

• Allelic Composition: Iapp^tm1Sgm/Iapp⁺
• Genetic Background: involves: 129P2/OlaHsd

skeleton

increased osteoclast cell number ( J:88964 )

• increase in the number of osteoclasts

• ex vivo experiments show the Iapp protein product to inhibit osteoclastogenesis

decreased bone mineral density ( J:88964 )

• due to increased bone resorption

• initial bone formation is normal

decreased compact bone thickness ( J:88964 )

abnormal trabecular bone morphology ( J:88964 )

• decrease in trabecular thickness and in connectivity between trabeculae

decreased bone mass ( J:88964 )

• low bone mass almost as severe as seen in homozygotes

increased bone resorption ( J:88964 )

hematopoietic system

increased osteoclast cell number ( J:88964 )

• increase in the number of osteoclasts

• ex vivo experiments show the Iapp protein product to inhibit osteoclastogenesis

immune system

increased osteoclast cell number ( J:88964 )

• increase in the number of osteoclasts

• ex vivo experiments show the Iapp protein product to inhibit osteoclastogenesis

Genotype
MGI:3040612

cx4

• Allelic Composition: Calcr^tm1Dgal/Calcr⁺; Iapp^tm1Sgm/Iapp⁺
• Genetic Background: involves: 129P2/OlaHsd

skeleton

increased osteoclast cell number ( J:88964 )

increased bone mass ( J:88964 )

increased bone ossification ( J:88964 )

• increase in bone formation rate

hematopoietic system

increased osteoclast cell number ( J:88964 )

immune system

increased osteoclast cell number ( J:88964 )