All Phenotypes Hnf1a<tm1.1Ylee> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hnf1a^tm1.1Ylee/Hnf1a^tm1.1Ylee	involves: 129X1/SvJ * C57BL/6J	MGI:3623394
ht2	Hnf1a^tm1.1Ylee/Hnf1a^tm2Ylee	involves: 129X1/SvJ * C57BL/6J	MGI:3818296
cn3	Hnf1a^tm1.1Ylee/Hnf1a^tm2Ylee Speer6-ps1^{Tg(Alb-cre)21Mgn}/?	involves: 129X1/SvJ * C57BL/6 * DBA	MGI:3818297

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:47008 )

• homozygous mice are born at less than half the expected frequency

growth/size/body

decreased body size ( J:47008 )

• homozygotes are slightly smaller than wild-type or heterozygous littermates

enlarged liver ( J:47008 )

• livers of 5 week old null mice are 50% larger than that of normal littermates; nulls develop central lobular hyperplasia, with degeneration of individual hepatocytes obvious at 12 weeks

homeostasis/metabolism

hyperglycemia ( J:47008 )

• 2 weeks after birth nulls develop hyperglycemia; null mice develop diabetes by 2 weeks of age

decreased circulating insulin level ( J:47008 )

• at 5 and 12 weeks, the circulating insulin levels in null mice are 60% of levels in heterozygotes

decreased circulating insulin-like growth factor I level ( J:47008 )

• levels of insulin-like growth factor I in the blood of null mice are only 20-30% that of control mice

increased circulating growth hormone level ( J:47008 )

• at 5 weeks of age, GH levels in null mice are 100 times and 45 times higher than those in control female and male mice

increased urine glucose level ( J:47008 )

• 6 week old null mice have urine glucose levels 330x higher than heterozygotes

increased cholesterol level ( J:47008 )

• cholesterol levels are higher in nulls than in heterozygotes

behavior/neurological

abnormal sexual interaction ( J:47008 )

• null males show no mating behavior when paired with wild-type or null females

endocrine/exocrine glands

abnormal pancreatic islet morphology ( J:47008 )

• the amount of insulin peptide and insulin-secreting cells in null mice are severely reduced

decreased pancreatic beta cell number ( J:47008 )

• the insulin-secreting cells in null mice are severely reduced

reproductive system

abnormal reproductive system morphology ( J:47008 )

• reproductive organs in both sexes are underdeveloped in null animals

abnormal spermatogenesis ( J:47008 )

• null males have significantly reduced spermatogenesis

infertility ( J:47008 )

• null mice of both sexes are infertile

renal/urinary system

increased urine glucose level ( J:47008 )

• 6 week old null mice have urine glucose levels 330x higher than heterozygotes

polyuria ( J:47008 )

• null mice urinate more frequently than normal mice and diuresis is twice the control level

liver/biliary system

enlarged liver ( J:47008 )

• livers of 5 week old null mice are 50% larger than that of normal littermates; nulls develop central lobular hyperplasia, with degeneration of individual hepatocytes obvious at 12 weeks

abnormal hepatocyte morphology ( J:47008 )

• hepatocytes from null mice are highly vacuolated and seemed to have an abnormal accumulation of complex carbohydrates

Mouse Models of Human Disease	DO ID	OMIM ID(s)	Ref(s)
maturity-onset diabetes of the young type 3	DOID:0111102	OMIM:600496	J:47008
type 2 diabetes mellitus	DOID:9352	OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036	J:47008

Allelic Composition	Hnf1a^tm1.1Ylee/Hnf1a^tm2Ylee
Genetic Background	involves: 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Hnf1a^tm1.1Ylee mutation (1 available); any Hnf1a mutation (29 available)
Hnf1a^tm2Ylee mutation (0 available); any Hnf1a mutation (29 available)

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

reproductive system

infertility ( J:81639 )

• both sexes

growth/size/body

decreased body size ( J:81639 )

• growth retarded

enlarged liver ( J:81639 )

liver/biliary system

abnormal liver morphology ( J:81639 )

• vacuous hepatocytes

enlarged liver ( J:81639 )

hepatic steatosis ( J:81639 )

• fatty liver

homeostasis/metabolism

hyperglycemia ( J:81639 )

• by 2 weeks of age

decreased circulating insulin level ( J:81639 )

Allelic Composition	Hnf1a^tm1.1Ylee/Hnf1a^tm2Ylee Speer6-ps1^{Tg(Alb-cre)21Mgn}/?
Genetic Background	involves: 129X1/SvJ * C57BL/6 * DBA

Find Mice

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

reproductive system

reproductive system phenotype ( J:81639 )

N	• viable and fertile

growth/size/body

growth/size/body region phenotype ( J:81639 )

N	• indistinguishable from controls

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:81639 )

N	• plasma cholesterol and triglyceride levels similar to controls

hyperglycemia ( J:81639 )

• by 2 weeks of age

decreased circulating insulin level ( J:81639 )

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