All Phenotypes Cdc42<tm1Brak> MGI Mouse

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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 (45 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 (45 available)
Six2^{tm1(tTA,tetO-EGFP/cre)Amc} mutation (0 available); any Six2 mutation (16 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 (45 available)
Gt(ROSA)26Sor^tm1(EYFP)Cos mutation (11 available); any Gt(ROSA)26Sor mutation (994 available)
Lgr5^{tm1(cre/ERT2)Cle} mutation (1 available); any Lgr5 mutation (58 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 (45 available)
Lgr5^{tm1(cre/ERT2)Cle} mutation (1 available); any Lgr5 mutation (58 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 (45 available)
Neurod6^tm1(cre)Kan mutation (0 available); any Neurod6 mutation (18 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 (45 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 (45 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 (45 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 (45 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 (45 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

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