Phenotypes associated with this allele

• Allele Symbol: Cyb5r4^tm1Hfb
• Allele Name: targeted mutation 1, H Franklin Bunn
• Allele ID: MGI:3050973
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cyb5r4^tm1Hfb/Cyb5r4^tm1Hfb	involves: 129S4/SvJae * BALB/cAnN	MGI:3051529

Genotype
MGI:3051529

hm1

• Allelic Composition: Cyb5r4^tm1Hfb/Cyb5r4^tm1Hfb
• Genetic Background: involves: 129S4/SvJae * BALB/cAnN

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

Immunohistochemical and ultrastructural assessment of insulin- and glucagon-producing cells in Cyb5r4^tm1Hfb/Cyb5r4^tm1Hfb mice

homeostasis/metabolism

hyperlipidemia ( J:91486 )

abnormal glucose homeostasis ( J:91486 )

decreased insulin secretion ( J:91486 )

• early defect in glucose stimulated insulin secretion but not in glucose sensing pathway

increased circulating glucose level ( J:91486 )

• normal glucose levels at 4 weeks of age in a fed state

• by 7 weeks of age blood glucose is 3X normal in the fed state or after overnight fasting

decreased circulating insulin level ( J:91486 )

• insulin levels 40% of normal at 4 weeks of age

• insulin levels 25% normal at 7 weeks of age and barely detectable after fasting

impaired glucose tolerance ( J:91486 )

• impaired tolerance for glucose given ip at 4 weeks of age

increased insulin sensitivity ( J:91486 )

• insulin tolerance is normal but with a slight increase in insulin sensitivity

endocrine/exocrine glands

abnormal pancreatic islet morphology ( J:91486 )

• decreased cytoplasm to nuclear ratio in islet cells

• no inflammatory cells or necrotic beta cells

• cell distribution pattern normal at 4 weeks of age

decreased pancreatic beta cell number ( J:91486 )

• beta cell numbers decreased at 7 weeks of age

• at 21 weeks a very small number of beta cells are left

• increased size and number of mitochondria

decreased insulin secretion ( J:91486 )

• early defect in glucose stimulated insulin secretion but not in glucose sensing pathway

adipose tissue

decreased total body fat amount ( J:91486 )

• decreased adipose tissue mass

behavior/neurological

increased food intake ( J:91486 )

• increased food intake

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
type 2 diabetes mellitus		DOID:9352	OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036	J:91486