All Phenotypes Nkx6-1<tm1Jlr> MGI Mouse

About Help FAQ

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 (993 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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24