All Phenotypes Nkx6-1<tm1Jlr> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Nkx6-1^tm1Jlr
targeted mutation 1, John L Rubenstein
MGI:2386119

Summary

6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nkx6-1^tm1Jlr/Nkx6-1^tm1Jlr	involves: 129	MGI:3614660
hm2	Nkx6-1^tm1Jlr/Nkx6-1^tm1Jlr	involves: 129 * C57BL/6J	MGI:3608711
ht3	Nkx6-1^tm1Jlr/Nkx6-1^tm1.2Msan	involves: 129S6/SvEvTac * C57BL * DBA * SJL	MGI:5501190
cn4	Nkx6-1^tm1Jlr/Nkx6-1^tm1.1Msan Gt(ROSA)26Sor^tm1(EYFP)Cos/Gt(ROSA)26Sor⁺ Tg(Ins2-cre)25Mgn/0	involves: 129 * C57BL/6 * DBA * SJL	MGI:5501188
cn5	Nkx6-1^tm1Jlr/Nkx6-1^tm1.1Msan Tg(CAG-Bgeo/GFP)21Lbe/0 Tg(Neurog3-cre)C1Able/0	involves: 129/Sv * C57BL/6 * SJL	MGI:5501186
cx6	Nkx2-2^tm1Jlr/Nkx2-2^tm1Jlr Nkx6-1^tm1Jlr/Nkx6-1^tm1Jlr	involves: 129 * 129X1/SvJ * C57BL/6J	MGI:3608712

Allelic Composition	Nkx6-1^tm1Jlr/Nkx6-1^tm1Jlr
Genetic Background	involves: 129

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx6-1^tm1Jlr mutation (0 available); any Nkx6-1 mutation (4 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:64376 )

• homozygotes are born at the expected Mendelian frequency but die soon after birth

nervous system

decreased motor neuron number ( J:64376 )

• homozygotes show a significant reduction in motor neuron generation

abnormal neuron specification ( J:64376 )

• homozygotes show a dorsal-to-ventral switch in the identity of progenitors and in the fate of postmitotic neurons, with a complete block in the generation of V2 interneurons and motor neurons and a compensatory ventral expansion in the domain of generation of V1 neurons

abnormal ventral interneuron 1 morphology ( J:64376 )

• homozygotes exhibit a significant reduction in the generation of V2 interneurons along with a compensatory ventral expansion in the generation of a more dorsal V1 neuronal subtype

abnormal ventral interneuron 2 morphology ( J:64376 )

• homozygotes exhibit a significant reduction in the generation of V2 interneurons along with a compensatory ventral expansion in the generation of a more dorsal V1 neuronal subtype

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:64376 )

• homozygotes display movements only upon tactile stimulation

Allelic Composition	Nkx6-1^tm1Jlr/Nkx6-1^tm1Jlr
Genetic Background	involves: 129 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx6-1^tm1Jlr mutation (0 available); any Nkx6-1 mutation (4 available)

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

endocrine/exocrine glands

decreased pancreatic beta cell number ( J:65594 )

• at >E12.5, homozygotes fail to exhibit an exponential expansion of insulin-expressing cells in the pancreas, with only a few mature beta cells detected at E18.5, indicating a specific blockage during the secondary phase of beta-cell neogenesis

• unlike Nkx2-2^tm1Jlr homozygotes, Nkx6-1^tm1Jlr mutant embryos do not accumulate incompletely differentiated beta-cell precursors but display decreased beta-cell neogenesis due to loss of late stage precursors in the absence of increased beta-cell apoptosis

small pancreatic islets ( J:65594 )

• at E18.5, mutant pancreata are of normal size and morphology; however, pancreatic islets are reduced in size and endocrine cells are organized into islet-like clusters

decreased insulin secretion ( J:65594 )

• at E18.5, mutant pancreata exhibit an insulin content that is 2% of wild-type content

• no differences in glucagon, somatostatin or PP content are observed

homeostasis/metabolism

decreased insulin secretion ( J:65594 )

• at E18.5, mutant pancreata exhibit an insulin content that is 2% of wild-type content

• no differences in glucagon, somatostatin or PP content are observed

Allelic Composition	Nkx6-1^tm1Jlr/Nkx6-1^tm1.2Msan
Genetic Background	involves: 129S6/SvEvTac * C57BL * DBA * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx6-1^tm1.2Msan mutation (0 available); any Nkx6-1 mutation (4 available)
Nkx6-1^tm1Jlr mutation (0 available); any Nkx6-1 mutation (4 available)

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

The gross morphology of Nkx6-1^tm1Jlr/Nkx6-1^tm1.2Msan embryos at E18.5

mortality/aging

neonatal lethality, complete penetrance ( J:195153 )

• mice die immediately after birth due to asphyxia

endocrine/exocrine glands

decreased pancreatic beta cell number ( J:195153 )

• at E18.5

behavior/neurological

forelimb paralysis ( J:195153 )

Allelic Composition	Nkx6-1^tm1Jlr/Nkx6-1^tm1.1Msan Gt(ROSA)26Sor^tm1(EYFP)Cos/Gt(ROSA)26Sor⁺ Tg(Ins2-cre)25Mgn/0
Genetic Background	involves: 129 * C57BL/6 * DBA * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gt(ROSA)26Sor^tm1(EYFP)Cos mutation (11 available); any Gt(ROSA)26Sor mutation (942 available)
Nkx6-1^tm1.1Msan mutation (1 available); any Nkx6-1 mutation (4 available)
Nkx6-1^tm1Jlr mutation (0 available); any Nkx6-1 mutation (4 available)
Tg(Ins2-cre)25Mgn mutation (2 available)

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

endocrine/exocrine glands

abnormal pancreatic beta cell differentiation ( J:195153 )

• maintenance of beta cell is impaired with conversion to delta cell fate

decreased pancreatic beta cell number ( J:195153 )

increased pancreatic delta cell number ( J:195153 )

cellular

abnormal pancreatic beta cell differentiation ( J:195153 )

• maintenance of beta cell is impaired with conversion to delta cell fate

Allelic Composition	Nkx6-1^tm1Jlr/Nkx6-1^tm1.1Msan Tg(CAG-Bgeo/GFP)21Lbe/0 Tg(Neurog3-cre)C1Able/0
Genetic Background	involves: 129/Sv * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx6-1^tm1.1Msan mutation (1 available); any Nkx6-1 mutation (4 available)
Nkx6-1^tm1Jlr mutation (0 available); any Nkx6-1 mutation (4 available)
Tg(CAG-Bgeo/GFP)21Lbe mutation (2 available)
Tg(Neurog3-cre)C1Able mutation (2 available)

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

mortality/aging

postnatal lethality, complete penetrance ( J:195153 )

• mice die within the first few days after birth

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:195153 )

N	• mice do not exhibit endocrine-to-acinar fate conversion • beta cells exhibit normal cell proliferation and apoptosis

abnormal pancreatic beta cell differentiation ( J:195153 )

• beta cell differentiation is impaired with insulin+ cells that are polyhormonal and ectopically express alpha cell markers unlike in control cells

increased pancreatic alpha cell number ( J:195153 )

decreased pancreatic beta cell number ( J:195153 )

• due to reduced differentiation without an effect on proliferation and apoptosis

increased pancreatic delta cell number ( J:195153 )

increased pancreatic epsilon cell number ( J:195153 )

homeostasis/metabolism

hyperglycemia ( J:195153 )

dehydration ( J:195153 )

cellular

abnormal pancreatic beta cell differentiation ( J:195153 )

• beta cell differentiation is impaired with insulin+ cells that are polyhormonal and ectopically express alpha cell markers unlike in control cells

Allelic Composition	Nkx2-2^tm1Jlr/Nkx2-2^tm1Jlr Nkx6-1^tm1Jlr/Nkx6-1^tm1Jlr
Genetic Background	involves: 129 * 129X1/SvJ * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-2^tm1Jlr mutation (0 available); any Nkx2-2 mutation (14 available)
Nkx6-1^tm1Jlr mutation (0 available); any Nkx6-1 mutation (4 available)

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

endocrine/exocrine glands

decreased PP cell number ( J:65594 )

• double homozygotes show a reduction in pancreatic polypeptide-expressing cells that is comparable to that observed in single Nkx2-2^tm1Jlr homozygotes

decreased pancreatic alpha cell number ( J:65594 )

• double homozygotes show a reduction in glucagon-expressing cells that is comparable to that observed in single Nkx2-2^tm1Jlr homozygotes

decreased pancreatic beta cell number ( J:65594 )

• double homozygotes accumulate incompletely differentiated islet cells, exhibing a pancreatic phenotype that is identical to that observed in single Nkx2-2^tm1Jlr homozygotes, indicating that Nkx6-1 lies downstream of Nkx2-2 in the major pathway of beta-cell formation

disorganized pancreatic islets ( J:65594 )

• double homozygotes exhibit a disrupted islet architecture, similar to that observed in single Nkx2-2^tm1Jlr homozygotes

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