Phenotypes associated with this allele

• Allele Symbol: Disp1^icb
• Allele Name: icbins
• Allele ID: MGI:2448055
• Summary: 8 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Disp1^icb/Disp1^icb	involves: 129/Sv * C57BL/6J * SWR	MGI:3513052
hm2	Disp1^icb/Disp1^icb	involves: C3HeB/FeJ * C57BL/6J	MGI:2448059
ht3	Disp1^icb/Disp1^tm1Amc	involves: 129X1/SvJ * C57BL/6J	MGI:3052725
cn4	Disp1^icb/Disp1^tm2Amc Shh^tm1(EGFP/cre)Cjt/Shh^+	involves: 129/Sv * C57BL/6J * SWR	MGI:3513048
cn5	Disp1^icb/Disp1^icb Shh^tm1Amc/Shh^tm5Amc Edil3^Tg(Sox2-cre)1Amc/Edil3^+	involves: 129/Sv * C57BL/6J * SWR	MGI:3513053
cn6	Disp1^icb/Disp1^tm1Amc Shh^tm1(EGFP/cre)Cjt/Shh^+	involves: 129X1/SvJ * C57BL/6J	MGI:3054017
cx7	Disp1^icb/Disp1^icb Ptch1^tm1Mps/Ptch1^tm1Mps	involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J	MGI:5803873
cx8	Disp1^icb/Disp1^tm1Amc Shh^tm1Amc/Shh^+	involves: 129X1/SvJ * C57BL/6J	MGI:3052728

Genotype
MGI:3513052

hm1

• Allelic Composition: Disp1^icb/Disp1^icb
• Genetic Background: involves: 129/Sv * C57BL/6J * SWR

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

mortality/aging

embryonic lethality, complete penetrance ( J:94270 )

• homozygotes die before E9.5

cardiovascular system

abnormal vascular development ( J:94270 )

abnormal heart development ( J:94270 )

craniofacial

abnormal facial morphology ( J:94270 )

• gross defects in facial development are seen

embryo

abnormal somite development ( J:94270 )

limbs/digits/tail

abnormal limb morphology ( J:94270 )

• gross defects in limb development are seen

nervous system

abnormal brain development ( J:94270 )

• defects in neural development are seen

growth/size/body

abnormal facial morphology ( J:94270 )

• gross defects in facial development are seen

Genotype
MGI:2448059

hm2

• Allelic Composition: Disp1^icb/Disp1^icb
• Genetic Background: involves: C3HeB/FeJ * C57BL/6J

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:79027 , J:98216 )

• embryos arrested at E9.0-E9.5 (J:79027)

• die at E9.0 (J:98216)

cardiovascular system

failure of heart looping ( J:79027 )

• embryos lacked asymmetrical heart looping

pericardial edema ( J:79027 )

craniofacial

abnormal head shape ( J:79027 )

• embryos possessed abnormally shaped heads

embryo

abnormal direction of embryo turning ( J:79027 )

• embryonic turning occurred in a randomized direction

abnormal left-right axis patterning ( J:98216 )

• left-right randomization

abnormal neural tube morphology ( J:79027 )

• neural tube was dorsalized

homeostasis/metabolism

pericardial edema ( J:79027 )

limbs/digits/tail

abnormal forelimb morphology ( J:79027 )

• embryos possessed relatively large forelimbs

nervous system

nervous system phenotype ( J:79027 )

N • intact notochord

abnormal neural tube morphology ( J:79027 )

• neural tube was dorsalized

abnormal spinal cord morphology ( J:98216 )

• dorsalized spinal cord

growth/size/body

abnormal head shape ( J:79027 )

• embryos possessed abnormally shaped heads

Genotype
MGI:3052725

ht3

• Allelic Composition: Disp1^icb/Disp1^tm1Amc
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

digestive/alimentary system

absent primary palate ( J:92058 )

• loss of primary palate

craniofacial

abnormal craniofacial bone morphology ( J:92058 )

abnormal neurocranium morphology ( J:92058 )

abnormal basisphenoid bone morphology ( J:92058 )

• misshapen or absent

absent basisphenoid bone ( J:92058 )

• misshapen or absent

abnormal occipital bone morphology ( J:92058 )

• misshapen or absent

absent occipital bone ( J:92058 )

• misshapen or absent

absent parietal bone ( J:92058 )

abnormal viscerocranium morphology ( J:92058 )

• loss of primary palate, premaxillary and nasal components

abnormal frontal bone morphology ( J:92058 )

• severe losses of frontal component

absent upper incisors ( J:92058 )

• loss of upper incisors

absent primary palate ( J:92058 )

• loss of primary palate

absent vomeronasal organ ( J:92058 )

• lack vomeronasal organs

endocrine/exocrine glands

absent pituitary gland ( J:92058 )

• failed to develop

respiratory system

absent vomeronasal organ ( J:92058 )

• lack vomeronasal organs

abnormal nasopharynx morphology ( J:92058 )

• nasopharyngeal airway narrowed or closed

skeleton

abnormal craniofacial bone morphology ( J:92058 )

abnormal neurocranium morphology ( J:92058 )

abnormal basisphenoid bone morphology ( J:92058 )

• misshapen or absent

absent basisphenoid bone ( J:92058 )

• misshapen or absent

abnormal occipital bone morphology ( J:92058 )

• misshapen or absent

absent occipital bone ( J:92058 )

• misshapen or absent

absent parietal bone ( J:92058 )

abnormal viscerocranium morphology ( J:92058 )

• loss of primary palate, premaxillary and nasal components

abnormal frontal bone morphology ( J:92058 )

• severe losses of frontal component

absent upper incisors ( J:92058 )

• loss of upper incisors

delayed chondrocyte differentiation ( J:92058 )

• delayed differentiation in the cervical region

nervous system

absent vomeronasal organ ( J:92058 )

• lack vomeronasal organs

absent pituitary gland ( J:92058 )

• failed to develop

holoprosencephaly ( J:92058 )

growth/size/body

abnormal head morphology ( J:92058 )

• severe midline facial defects by E10.5

abnormal viscerocranium morphology ( J:92058 )

• loss of primary palate, premaxillary and nasal components

absent basisphenoid bone ( J:92058 )

• misshapen or absent

abnormal frontal bone morphology ( J:92058 )

• severe losses of frontal component

absent upper incisors ( J:92058 )

• loss of upper incisors

absent primary palate ( J:92058 )

• loss of primary palate

absent vomeronasal organ ( J:92058 )

• lack vomeronasal organs

Genotype
MGI:3513048

cn4

• Allelic Composition: Disp1^icb/Disp1^tm2Amc; Shh^{tm1(EGFP/cre)Cjt}/Shh⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * SWR

mortality/aging

neonatal lethality ( J:94270 )

craniofacial

absent parietal bone ( J:94270 )

abnormal nasal pit morphology ( J:94270 )

• fusion of the nasal pits

abnormal facial morphology ( J:94270 )

• facial midline defects are seen

absent premaxilla ( J:94270 )

skeleton

absent parietal bone ( J:94270 )

absent premaxilla ( J:94270 )

nervous system

abnormal neuron differentiation ( J:94270 )

• pMN and pV3 progenitor cells are found at the midline and are reduced in numbers to less than 10% wild-type

absent floor plate ( J:94270 )

embryo

absent floor plate ( J:94270 )

respiratory system

abnormal nasal pit morphology ( J:94270 )

• fusion of the nasal pits

cellular

abnormal neuron differentiation ( J:94270 )

• pMN and pV3 progenitor cells are found at the midline and are reduced in numbers to less than 10% wild-type

growth/size/body

abnormal facial morphology ( J:94270 )

• facial midline defects are seen

absent premaxilla ( J:94270 )

Genotype
MGI:3513053

cn5

• Allelic Composition: Disp1^icb/Disp1^icb; Shh^tm1Amc/Shh^tm5Amc; Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
• Genetic Background: involves: 129/Sv * C57BL/6J * SWR

mortality/aging

perinatal lethality, complete penetrance ( J:94270 )

• compound mutants die around birth unlike Disp1 single homozygotes which die before E9.5

craniofacial

abnormal frontonasal prominence morphology ( J:94270 )

• midline defects in the frontal nasal process are seen, however many of the developmental defects seen in Disp1 single homozygotes are rescued in the compound mutants

Genotype
MGI:3054017

cn6

• Allelic Composition: Disp1^icb/Disp1^tm1Amc; Shh^{tm1(EGFP/cre)Cjt}/Shh⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

limbs/digits/tail

oligodactyly ( J:92504 )

• digit 2 is absent, all other digits are present

Genotype
MGI:5803873

cx7

• Allelic Composition: Disp1^icb/Disp1^icb; Ptch1^tm1Mps/Ptch1^tm1Mps
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C3HeB/FeJ * C57BL/6J

mortality/aging

embryonic lethality, complete penetrance ( J:79027 )

• embryos arrested at E9.0-9.5

nervous system

abnormal neural tube morphology ( J:79027 )

• neural tube was ventralized

open neural tube ( J:79027 )

embryo

abnormal neural tube morphology ( J:79027 )

• neural tube was ventralized

open neural tube ( J:79027 )

growth/size/body

abnormal head morphology ( J:79027 )

• heads of the embryos appeared truncated

Genotype
MGI:3052728

cx8

• Allelic Composition: Disp1^icb/Disp1^tm1Amc; Shh^tm1Amc/Shh⁺
• Genetic Background: involves: 129X1/SvJ * C57BL/6J

cardiovascular system

failure of heart looping ( J:92058 )

• no heart looping but normal embryo turning

nervous system

holoprosencephaly ( J:92058 )

abnormal neuron specification ( J:92058 )

• ventral midline of neural tube occupied by a reduced population of motor neuron progenitors

craniofacial

proboscis ( J:92058 )

• extreme proboscis-like nasal process

growth/size/body

proboscis ( J:92058 )

• extreme proboscis-like nasal process

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly 3		DOID:0110875	OMIM:142945	J:92058