All Phenotypes Dph1<tm2Bhr> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Dph1^tm2Bhr
targeted mutation 2, Richard R Behringer
MGI:3033425

Summary

10 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dph1^tm2Bhr/Dph1^tm2Bhr	either: 129/Sv or (involves: 129/Sv * C57BL/6)	MGI:3033457
hm2	Dph1^tm2Bhr/Dph1^tm2Bhr	involves: 129S4/SvJae * C57BL/6J	MGI:5659969
ht3	Dph1^tm2Bhr/Dph1⁺	involves: 129/Sv * C57BL/6	MGI:3033458
ht4	Dph1^tm1Bhr/Dph1^tm2Bhr	involves: 129/Sv * C57BL/6	MGI:3033454
cn5	Dph1^tm2Bhr/Dph1⁺ Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺ Mesp1^tm2(cre)Ysa/Mesp1⁺	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj	MGI:5659980
cn6	Dph1^tm2Bhr/Dph1^tm2Bhr Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺ Mesp1^tm2(cre)Ysa/Mesp1⁺	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj	MGI:5659981
cn7	Dph1^tm2Bhr/Dph1⁺ Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * CBA/J	MGI:5659976
cn8	Dph1^tm2Bhr/Dph1^tm2Bhr Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * CBA/J	MGI:5659977
cx9	Dph1^tm2Bhr/Dph1⁺ Trp53^tm1Tyj/Trp53⁺	involves: 129/Sv * C57BL/6	MGI:3033461
cx10	Dph1^tm2Bhr/Dph1^tm2Bhr Trp53^tm1Tyj/Trp53^tm1Tyj	involves: 129/Sv * C57BL/6	MGI:3033460

Allelic Composition	Dph1^tm2Bhr/Dph1^tm2Bhr
Genetic Background	either: 129/Sv or (involves: 129/Sv * C57BL/6)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dph1^tm2Bhr mutation (0 available); any Dph1 mutation (27 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:88090 )

• homozygotes die soon after birth

embryonic lethality during organogenesis, incomplete penetrance ( J:88090 )

• 30-50% of embryos die between E11.5 and E13.5

embryonic lethality, complete penetrance ( J:88090 )

• Background Sensitivity: on a pure 129/Sv background, 100% of homozygous embryos die

pigmentation

abnormal eye pigmentation ( J:88090 )

• delayed eye pigmentation at E10.5

cellular

abnormal cell cycle ( J:88090 )

• reduction in the number of S phase cells in cultured MEFs

craniofacial

abnormal craniofacial bone morphology ( J:88090 )

cleft palate ( J:88090 )

• seen in newborns

embryo

abnormal embryo turning ( J:88090 )

• turned by E9.5 but are very small

embryonic growth retardation ( J:88090 )

• development appears to be delayed 12-24 hours

abnormal neural tube morphology ( J:88090 )

• abnormalities of the neural tube in the midbrain area

abnormal somite development ( J:88090 )

• E8.5 embryos with 0-2 somites as opposed to 6-7 somites normally

hematopoietic system

increased nucleated erythrocyte cell number ( J:88090 )

• erythrocytes remain nucleated at E16.5

homeostasis/metabolism

hydrops fetalis ( J:88090 )

• common by E13.5-E14.5

limbs/digits/tail

preaxial polydactyly ( J:88090 )

• preaxial polydactyly is common

liver/biliary system

abnormal hepatoblast morphology ( J:88090 )

• basophilic elongated nuclei in E16.5 hepatoblasts

liver degeneration ( J:88090 )

• focal liver degeneration at E16.5

respiratory system

abnormal lung development ( J:88090 )

• immature lung phenotype

• hypercellularity

thick lung-associated mesenchyme ( J:88090 )

• thickened mesenchyme

primary atelectasis ( J:88090 )

• lungs never inflate prior to death

respiratory failure ( J:88090 )

• homozygous mice die of respiratory distress

skeleton

abnormal craniofacial bone morphology ( J:88090 )

abnormal skeleton development ( J:88090 )

vision/eye

abnormal eye morphology ( J:88090 )

• absence of the eye altogether occasionally

abnormal eye pigmentation ( J:88090 )

• delayed eye pigmentation at E10.5

nervous system

abnormal neural tube morphology ( J:88090 )

• abnormalities of the neural tube in the midbrain area

growth/size/body

cleft palate ( J:88090 )

• seen in newborns

embryonic growth retardation ( J:88090 )

• development appears to be delayed 12-24 hours

decreased fetal weight ( J:88090 )

• body weight of E18.5 embryos is about 50% of normal

digestive/alimentary system

cleft palate ( J:88090 )

• seen in newborns

Allelic Composition	Dph1^tm2Bhr/Dph1^tm2Bhr
Genetic Background	involves: 129S4/SvJae * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dph1^tm2Bhr mutation (0 available); any Dph1 mutation (27 available)

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

mortality/aging

lethality at weaning, complete penetrance ( J:214744 )

• no mice are seen at weaning

craniofacial

short Meckel's cartilage ( J:214744 )

• Meckel's cartilages in the lower jaws are shorter at E15.5 and E16.5

• however, embryos display normal cartilage formation

small cranium ( J:214744 )

micrognathia ( J:214744 )

absent palatine bone ( J:214744 )

palatal shelves fail to meet at midline ( J:214744 )

• distance between palate shelves at E14.5 and E15.5 is increased

• absence of palatal shelf fusion at the midline at E15.5 because palatal shelves remain on the lateral sides of the tongue

decreased palatal shelf size ( J:214744 )

• smaller palatal shelves at E13.5

cleft secondary palate ( J:214744 )

• severe cleft palate at birth

• palatal shelf elevation in ex vivo culture without the tongue and lower jaw occurs normally, indicating that palatal shelves are able to initiate elevation, however the smaller palatal shelves and shorter lower jaw are what may contribute to cleft palate

abnormal tongue position ( J:214744 )

• tongue fails to descend at E14.5 and E15.5

growth/size/body

palatal shelves fail to meet at midline ( J:214744 )

• distance between palate shelves at E14.5 and E15.5 is increased

• absence of palatal shelf fusion at the midline at E15.5 because palatal shelves remain on the lateral sides of the tongue

decreased palatal shelf size ( J:214744 )

• smaller palatal shelves at E13.5

cleft secondary palate ( J:214744 )

• severe cleft palate at birth

abnormal tongue position ( J:214744 )

• tongue fails to descend at E14.5 and E15.5

decreased body size ( J:214744 )

limbs/digits/tail

preaxial polydactyly ( J:214744 )

• additional digits on the hindlimbs

digestive/alimentary system

palatal shelves fail to meet at midline ( J:214744 )

• distance between palate shelves at E14.5 and E15.5 is increased

• absence of palatal shelf fusion at the midline at E15.5 because palatal shelves remain on the lateral sides of the tongue

decreased palatal shelf size ( J:214744 )

• smaller palatal shelves at E13.5

cleft secondary palate ( J:214744 )

• severe cleft palate at birth

abnormal tongue position ( J:214744 )

• tongue fails to descend at E14.5 and E15.5

skeleton

short Meckel's cartilage ( J:214744 )

• Meckel's cartilages in the lower jaws are shorter at E15.5 and E16.5

• however, embryos display normal cartilage formation

small cranium ( J:214744 )

micrognathia ( J:214744 )

absent palatine bone ( J:214744 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Miller-Dieker lissencephaly syndrome		DOID:0060469	OMIM:247200	J:214744

Allelic Composition	Dph1^tm2Bhr/Dph1⁺
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dph1^tm2Bhr mutation (0 available); any Dph1 mutation (27 available)

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

neoplasm

increased tumor incidence ( J:88090 )

• 56% of heterozygotes develop tumors by 2 years of age

• mean occurance at 92 weeks

Allelic Composition	Dph1^tm1Bhr/Dph1^tm2Bhr
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dph1^tm1Bhr mutation (0 available); any Dph1 mutation (27 available)
Dph1^tm2Bhr mutation (0 available); any Dph1 mutation (27 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:88090 )

• homozygotes die soon after birth

embryonic lethality during organogenesis, incomplete penetrance ( J:88090 )

• 30-50% of embryos die between E11.5 and E13.5

embryo

embryonic growth retardation ( J:88090 )

• development appears to be delayed 12-24 hours

growth/size/body

embryonic growth retardation ( J:88090 )

• development appears to be delayed 12-24 hours

decreased fetal weight ( J:88090 )

• body weight at E18.5 is about 50% of normal

homeostasis/metabolism

hydrops fetalis ( J:88090 )

• common by E13.5-E14.5

Allelic Composition	Dph1^tm2Bhr/Dph1⁺ Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺ Mesp1^tm2(cre)Ysa/Mesp1⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dph1^tm2Bhr mutation (0 available); any Dph1 mutation (27 available)
Gt(ROSA)26Sor^tm1(DTA)Jpmb mutation (2 available); any Gt(ROSA)26Sor mutation (942 available)
Mesp1^tm2(cre)Ysa mutation (1 available); any Mesp1 mutation (17 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:214744 )

• no embryos at E10.5

Allelic Composition	Dph1^tm2Bhr/Dph1^tm2Bhr Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺ Mesp1^tm2(cre)Ysa/Mesp1⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

Find Mice

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

mortality/aging

mortality/aging ( J:214744 )

N	• embryos are obtained unlike in triple mutants that are heterozygous for the Dph1 allele

Allelic Composition	Dph1^tm2Bhr/Dph1⁺ Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dph1^tm2Bhr mutation (0 available); any Dph1 mutation (27 available)
Gt(ROSA)26Sor^tm1(DTA)Jpmb mutation (2 available); any Gt(ROSA)26Sor mutation (942 available)
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)

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

growth/size/body

acephaly ( J:214744 )

• loss of head structures in E10.5 embryos

Allelic Composition	Dph1^tm2Bhr/Dph1^tm2Bhr Gt(ROSA)26Sor^tm1(DTA)Jpmb/Gt(ROSA)26Sor⁺ H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJae * C57BL/6J * CBA/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dph1^tm2Bhr mutation (0 available); any Dph1 mutation (27 available)
Gt(ROSA)26Sor^tm1(DTA)Jpmb mutation (2 available); any Gt(ROSA)26Sor mutation (942 available)
H2az2^{Tg(Wnt1-cre)11Rth} mutation (2 available); any H2az2 mutation (26 available)

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

growth/size/body

growth/size/body region phenotype ( J:214744 )

N	• embryos retain their heads and appear normal at E10.5

Allelic Composition	Dph1^tm2Bhr/Dph1⁺ Trp53^tm1Tyj/Trp53⁺
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dph1^tm2Bhr mutation (0 available); any Dph1 mutation (27 available)
Trp53^tm1Tyj mutation (12 available); any Trp53 mutation (232 available)

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

neoplasm

decreased tumor latency ( J:88090 )

• latency of 52 weeks as opposed to 70 weeks

Allelic Composition	Dph1^tm2Bhr/Dph1^tm2Bhr Trp53^tm1Tyj/Trp53^tm1Tyj
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

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

mortality/aging

neonatal lethality, complete penetrance ( J:88090 )

• homozygotes die soon after birth

embryonic lethality during organogenesis, incomplete penetrance ( J:88090 )

• 30-50% of embryos die between E11.5 and E13.5

cellular

cellular phenotype ( J:88090 )

N	• proliferation defect in cultured MEFs rescued by this genotype

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