All Phenotypes Cdc42<tm1Brak> MGI Mouse

About Help FAQ

Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Cdc42^tm1Brak
targeted mutation 1, Cord Brakebusch
MGI:3619134

Summary

10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(Pf4-icre)Q3Rsko/0	involves: 129 * C57BL/6	MGI:5755421
cn2	Cdc42^tm1Brak/Cdc42^tm1Brak Six2^{tm1(tTA,tetO-EGFP/cre)Amc}/Six2⁺	involves: 129 * C57BL/6J	MGI:5486302
cn3	Cdc42^tm1Brak/Cdc42^tm1Brak Gt(ROSA)26Sor^tm1(EYFP)Cos/Gt(ROSA)26Sor⁺ Lgr5^{tm1(cre/ERT2)Cle}/Lgr5⁺	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6	MGI:5427870
cn4	Cdc42^tm1Brak/Cdc42^tm1Brak Lgr5^{tm1(cre/ERT2)Cle}/Lgr5⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:5427869
cn5	Arhgap33^tm1.1Wbm/Arhgap33^tm1.1Wbm Cdc42^tm1Brak/Cdc42⁺ Neurod6^tm1(cre)Kan/Neurod6⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5431235
cn6	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)LC1Bjd/0	involves: BALB/c * C57BL/6 * DBA	MGI:5807149
cn7	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(Plp1-cre/ERT2)1Ueli/0	involves: C57BL/6 * DBA/2	MGI:5460891
cn8	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(KRT5-cre)5132Jlj/0	involves: C57BL/6J * DBA/2J	MGI:3619916
cn9	Cdc42^tm1Brak/Cdc42⁺ Rab8a^tm1.1Aha/Rab8a⁺ Tg(Vil1-cre)997Gum/0	involves: C57BL/6J * SJL	MGI:5427871
cn10	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(Vil1-cre)997Gum/0	involves: C57BL/6J * SJL	MGI:5427868

Allelic Composition	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(Pf4-icre)Q3Rsko/0
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Tg(Pf4-icre)Q3Rsko mutation (1 available)

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

homeostasis/metabolism

abnormal platelet physiology ( J:160792 )

• decreased platelet life span in vivo resulting in increased turnover

abnormal platelet activation ( J:160792 )

• moderate decrease following activation with integrin alpha2bbeta3

increased platelet aggregation ( J:160792 )

• at low agonist concentrations (thromboxane A2 analog U46619, CRP, and collagen) with increased aggregate size

• however, aggregation is normal in response to thrombin and do not exhibit spontaneous aggregation upon addition of epinephrine

abnormal platelet dense granule physiology ( J:160792 )

• upon agonist activation, platelets exhibit moderately increased secretion compared with control cells

• in response to thrombin and CRP, ATP release is strongly increased compared to in control cells

• however, cells exhibit normal serotonin release and numbers of alpha and dense granules

increased susceptibility to induced thrombosis ( J:160792 )

• accelerated arterial occlusive thrombus formation following ferric chloride-induced mesenteric arteriole injury

increased bleeding time ( J:160792 )

hematopoietic system

abnormal platelet morphology ( J:160792 )

• increased platelet size determined by increased width

• reduced filopodia extension after adhesion of immobilized VWF

• however, mice exhibit normal formation and structure of filopodia and normal spreading morphology following activation with ADP or thrombin

thrombocytopenia ( J:160792 )

• moderate

abnormal platelet physiology ( J:160792 )

• decreased platelet life span in vivo resulting in increased turnover

abnormal platelet activation ( J:160792 )

• moderate decrease following activation with integrin alpha2bbeta3

increased platelet aggregation ( J:160792 )

• at low agonist concentrations (thromboxane A2 analog U46619, CRP, and collagen) with increased aggregate size

• however, aggregation is normal in response to thrombin and do not exhibit spontaneous aggregation upon addition of epinephrine

abnormal platelet dense granule physiology ( J:160792 )

• upon agonist activation, platelets exhibit moderately increased secretion compared with control cells

• in response to thrombin and CRP, ATP release is strongly increased compared to in control cells

• however, cells exhibit normal serotonin release and numbers of alpha and dense granules

Allelic Composition	Cdc42^tm1Brak/Cdc42^tm1Brak Six2^{tm1(tTA,tetO-EGFP/cre)Amc}/Six2⁺
Genetic Background	involves: 129 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Six2^{tm1(tTA,tetO-EGFP/cre)Amc} mutation (0 available); any Six2 mutation (15 available)

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

Kidney abnormalities in Cdc42^tm1Brak/Cdc42^tm1Brak Six2^{tm1(tTA,tetO-EGFP/cre)Amc}/Six2⁺ mice

mortality/aging

postnatal lethality, complete penetrance ( J:195266 )

renal/urinary system

abnormal kidney cortex morphology ( J:195266 )

• absence of convoluted renal epithelia and glomeruli in the cortex

decreased renal glomerulus number ( J:195266 )

• at P0

abnormal kidney development ( J:195266 )

• very limited nephrogenesis

abnormal nephrogenic zone morphology ( J:195266 )

• reduced nephrogenic zone at E18.5

abnormal kidney papilla morphology ( J:195266 )

• small papilla at E18.5

renal hypoplasia ( J:195266 )

• at P0

abnormal proximal convoluted tubule morphology ( J:195266 )

• tubules are decreased in number, truncated and have barely discernible lumens

decreased renal tubule number ( J:195266 )

• fewer proximal tubules

anuria ( J:195266 )

• neonatal mice have an empty bladder suggesting a failure to produce urine

Allelic Composition	Cdc42^tm1Brak/Cdc42^tm1Brak Gt(ROSA)26Sor^tm1(EYFP)Cos/Gt(ROSA)26Sor⁺ Lgr5^{tm1(cre/ERT2)Cle}/Lgr5⁺
Genetic Background	involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Gt(ROSA)26Sor^tm1(EYFP)Cos mutation (11 available); any Gt(ROSA)26Sor mutation (942 available)
Lgr5^{tm1(cre/ERT2)Cle} mutation (1 available); any Lgr5 mutation (57 available)

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

digestive/alimentary system

increased small intestinal crypt cell apoptosis ( J:184563 )

• intestinal crypt stem cells show increased cell death following tamoxifen administration

abnormal intestinal epithelium morphology ( J:184563 )

• 3 weeks after tamoxifen administration, mutant villus epithelial cells show disrupted cell polarity, as indicated by disorganized nuclear alignment

• stem cells contribute less to the villus epithelial compartments than in controls following tamoxifen administration

abnormal crypts of Lieberkuhn morphology ( J:184563 )

• 3 weeks after tamoxifen administration, more mutant stem cells in intestinal crypts undergo mitosis compared to control stem cells

• stem cells contribute less to the villus epithelial compartments than in controls following tamoxifen administration, indicating reduced clonal expansion of mutant stem cells

absent Paneth cells ( J:184563 )

• 2 weeks after tamoxifen administration, mutant stem cells in intestinal crypts fail to give rise to Paneth cells

abnormal small intestinal villus morphology ( J:184563 )

• 3 weeks after tamoxifen administration, mutant villus epithelial cells show disrupted cell polarity, as indicated by disorganized nuclear alignment

endocrine/exocrine glands

abnormal crypts of Lieberkuhn morphology ( J:184563 )

• 3 weeks after tamoxifen administration, more mutant stem cells in intestinal crypts undergo mitosis compared to control stem cells

• stem cells contribute less to the villus epithelial compartments than in controls following tamoxifen administration, indicating reduced clonal expansion of mutant stem cells

absent Paneth cells ( J:184563 )

• 2 weeks after tamoxifen administration, mutant stem cells in intestinal crypts fail to give rise to Paneth cells

cellular

increased small intestinal crypt cell apoptosis ( J:184563 )

• intestinal crypt stem cells show increased cell death following tamoxifen administration

Allelic Composition	Cdc42^tm1Brak/Cdc42^tm1Brak Lgr5^{tm1(cre/ERT2)Cle}/Lgr5⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Lgr5^{tm1(cre/ERT2)Cle} mutation (1 available); any Lgr5 mutation (57 available)

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

digestive/alimentary system

abnormal crypts of Lieberkuhn morphology ( J:184563 )

• one week after tamoxifen administration, 56% of mutant crypts show stem cells forming a clustering pattern lacking clear demarcation between each other, while at 3 weeks after tamoxifen administration, 85% do so

• stem cells in mutant crypts 3 weeks after tamoxifen treatment lose the typical triangle shapes and marker analysis indicates disrupted crypt cell polarity

• loss of stem cells

• intestinal crypt cells, most likely Paneth cells, contain large vacuoles

absent Paneth cells ( J:184563 )

• reduction or absence of Paneth cell granules, indicating loss of Paneth cells

endocrine/exocrine glands

abnormal crypts of Lieberkuhn morphology ( J:184563 )

• stem cells in mutant crypts 3 weeks after tamoxifen treatment lose the typical triangle shapes and marker analysis indicates disrupted crypt cell polarity

• loss of stem cells

• intestinal crypt cells, most likely Paneth cells, contain large vacuoles

absent Paneth cells ( J:184563 )

• reduction or absence of Paneth cell granules, indicating loss of Paneth cells

Allelic Composition	Arhgap33^tm1.1Wbm/Arhgap33^tm1.1Wbm Cdc42^tm1Brak/Cdc42⁺ Neurod6^tm1(cre)Kan/Neurod6⁺
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Arhgap33^tm1.1Wbm mutation (0 available); any Arhgap33 mutation (45 available)
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Neurod6^tm1(cre)Kan mutation (0 available); any Neurod6 mutation (17 available)

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

nervous system

abnormal parietal lobe morphology ( J:185948 )

• significant improvement in parietal cortical thickness compared to mice homozygous for Arhgap33^tm1.1Wbm alone

Allelic Composition	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(Pax8-rtTA2S*M2)1Koes/0 Tg(tetO-cre)LC1Bjd/0
Genetic Background	involves: BALB/c * C57BL/6 * DBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Tg(Pax8-rtTA2S*M2)1Koes mutation (3 available)
Tg(tetO-cre)LC1Bjd mutation (2 available)

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

homeostasis/metabolism

increased susceptibility to kidney reperfusion injury ( J:221423 )

• following ischemia/reperfusion injury, doxycycline-treated mice exhibit a misorganized, multi-layered, hyperproliferative epithelium and impaired recovery of renal function

renal/urinary system

increased susceptibility to kidney reperfusion injury ( J:221423 )

• following ischemia/reperfusion injury, doxycycline-treated mice exhibit a misorganized, multi-layered, hyperproliferative epithelium and impaired recovery of renal function

abnormal renal tubule epithelium morphology ( J:221423 )

• following ischemia/reperfusion injury, doxycycline-treated mice exhibit a misorganized, multi-layered, hyperproliferative epithelium and impaired recovery of renal function

• dividing cells of doxycycline-treated mice during kidney repair show a high shift toward mitotic spindle angles perpendicular to the epithelial plane

• however, doxycline-treated mice exhibit normal kidney histology and function under basal conditions

Allelic Composition	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(Plp1-cre/ERT2)1Ueli/0
Genetic Background	involves: C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Tg(Plp1-cre/ERT2)1Ueli mutation (0 available)

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

nervous system

abnormal myelin sheath morphology ( J:190437 )

• mutants injected with tamoxifen at 10 weeks of age exhibit prominent myelin foldings in sciatic nerves

Allelic Composition	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(KRT5-cre)5132Jlj/0
Genetic Background	involves: C57BL/6J * DBA/2J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Tg(KRT5-cre)5132Jlj mutation (1 available)

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

growth/size/body

dermal cyst ( J:105811 )

• at 4.5 months, dermal cysts are detected

postnatal growth retardation ( J:105811 )

• 30% of 2 week old mice exhibit growth retardation

integument

dermal cyst ( J:105811 )

• at 4.5 months, dermal cysts are detected

abnormal hair shaft morphology ( J:105811 )

• no hair shafts are observed in mutants

abnormal hair follicle morphology ( J:105811 )

abnormal hair follicle matrix region morphology ( J:105811 )

• no hair matrix is observed in mutants

absent hair follicle inner root sheath ( J:105811 )

• no inner root sheath is observed

abnormal epidermal layer morphology ( J:105811 )

abnormal epidermis stratum corneum morphology ( J:105811 )

• the stratum corneum extends deep into the hair follicles of mutants

hyperkeratosis ( J:105811 )

• 2 week old mutants exhibit keratosis of the epidermis

abnormal keratinocyte morphology ( J:105811 )

• mutants older than 4 months show a significant widening of the intracellular space between keratinocytes in the epidermis

• some keratinocytes have long protrusions which contact neighboring keratinocytes

epidermal hyperplasia ( J:105811 )

• 2-week old mutants exhibit strong hyperplasia of the epidermis

Allelic Composition	Cdc42^tm1Brak/Cdc42⁺ Rab8a^tm1.1Aha/Rab8a⁺ Tg(Vil1-cre)997Gum/0
Genetic Background	involves: C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Rab8a^tm1.1Aha mutation (0 available); any Rab8a mutation (18 available)
Tg(Vil1-cre)997Gum mutation (2 available)

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

digestive/alimentary system

abnormal crypts of Lieberkuhn morphology ( J:184563 )

• greatly expanded or elongated crypts with large lumens and vacuoles

• the inner surfaces of cryptic lumina/values are lined by microvilli

abnormal Paneth cell morphology ( J:184563 )

• electron densities of Paneth cell granules are reduced in crypts

intestinal edema ( J:184563 )

• increase in intestinal tissue weight per surface area, indicating tissue edema

abnormal intestine physiology ( J:184563 )

• mutant intestines exhibit a reduction in glucose uptake compared to either single mutant

endocrine/exocrine glands

abnormal crypts of Lieberkuhn morphology ( J:184563 )

• greatly expanded or elongated crypts with large lumens and vacuoles

• the inner surfaces of cryptic lumina/values are lined by microvilli

abnormal Paneth cell morphology ( J:184563 )

• electron densities of Paneth cell granules are reduced in crypts

homeostasis/metabolism

intestinal edema ( J:184563 )

• increase in intestinal tissue weight per surface area, indicating tissue edema

cellular

abnormal cellular glucose uptake ( J:184563 )

• mutant intestines exhibit a reduction in glucose uptake compared to either single mutant

Allelic Composition	Cdc42^tm1Brak/Cdc42^tm1Brak Tg(Vil1-cre)997Gum/0
Genetic Background	involves: C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cdc42^tm1Brak mutation (0 available); any Cdc42 mutation (43 available)
Tg(Vil1-cre)997Gum mutation (2 available)

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

mortality/aging

premature death ( J:184563 )

• approximately 10% of mutants die at 6 months of age, with an average body weight of about 1/3 that of controls

growth/size/body

decreased body size ( J:184563 )

• mutants appear smaller in size starting at P9

postnatal growth retardation ( J:184563 )

• mutants become severely growth-retarded after weaning, with weight plateauing around 3 months of age

digestive/alimentary system

abnormal anus morphology ( J:184563 )

• at 3 months of age, mutants exhibit anal swelling, however no intestinal bleeding is seen

abnormal intestine morphology ( J:184563 )

abnormal intestinal goblet cell morphology ( J:184563 )

• intestinal crypts contain increased numbers of goblet cells

abnormal intestinal enteroendocrine cell morphology ( J:184563 )

• intestinal crypts contain increased numbers of enteroendocrine cells

abnormal intestinal epithelium morphology ( J:184563 )

• at E16.5, intervillus epithelial cells display abnormalities in cytoplasmic division and nuclear organization

• postnatally, villus epithelial cells show an accumulation of vacuoles in their cytoplasm, which persists throughout adulthood with increased severity

• fetal and adult intestines show disruptions of basolateral plasma membrane in villus epithelia with frequent inclusions of lectin Dolichos biflorus agglutinin to the basolaterally located inter- or intracellular regions

abnormal enterocyte morphology ( J:184563 )

• mutants exhibit formation of large intracellular vacuolar structures containing microvilli (microvillus inclusion bodies) in epithelial enterocytes as early as P7

• inclusion bodies become enlarged with age

abnormal crypts of Lieberkuhn morphology ( J:184563 )

• progenitor cells in intestinal crypts are intermingled and become indistinguishable from transit amplifying cells

• marker analysis indicates decreased stem and Paneth cell populations in crypts

decreased Paneth cell number ( J:184563 )

• complete absence of typical Paneth cell granules in 99% of intestinal crypts at 1 month of age and marker analysis indicates decreased Paneth cell population in crypts

intestinal edema ( J:184563 )

• increase in intestinal tissue weight per surface area, indicating tissue edema

abnormal defecation ( J:184563 )

• soft stools are frequently detected at 3 months of age

abnormal intestine physiology ( J:184563 )

• intestines show reduced nutrient uptake (of glucose, carnosine and proline), with almost no absorption of proline

abnormal small intestinal crypt cell physiology ( J:184563 )

• increase in number of cells undergoing mitosis in intestinal crypts

increased small intestinal crypt cell apoptosis ( J:184563 )

• increase in apoptotic cell number in intestinal crypts

endocrine/exocrine glands

abnormal crypts of Lieberkuhn morphology ( J:184563 )

• progenitor cells in intestinal crypts are intermingled and become indistinguishable from transit amplifying cells

• marker analysis indicates decreased stem and Paneth cell populations in crypts

decreased Paneth cell number ( J:184563 )

• complete absence of typical Paneth cell granules in 99% of intestinal crypts at 1 month of age and marker analysis indicates decreased Paneth cell population in crypts

cellular

abnormal intestinal goblet cell morphology ( J:184563 )

• intestinal crypts contain increased numbers of goblet cells

increased small intestinal crypt cell apoptosis ( J:184563 )

• increase in apoptotic cell number in intestinal crypts

homeostasis/metabolism

intestinal edema ( J:184563 )

• increase in intestinal tissue weight per surface area, indicating tissue edema

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
microvillus inclusion disease		DOID:0060775	OMIM:251850	J:184563

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 04/09/2024 MGI 6.23